Parkinsonism & Related Disorders

Editorial Board

2012-02-01

Propofol-induced paroxysmal dystonia

Carlos Cosentino, Luis Torres — 2011-12-16

Propofol (2,6-diisopropylphenol) is a short acting intravenous anesthetic agent used for induction and maintenance of general anesthesia. Rapid recovery and lack of postoperative nausea have made it particularly valuable for patients undergoing surgery as well as in emergency and intensive care units where brief periods of sedation are required.

Relationships between motor aspects of gait impairments and activity limitations in people with Parkinson's disease: A systematic review

Dawn Tan, Mary Danoudis, Jennifer McGinley, Meg E. Morris — 2011-11-17

Abstract: Gait disorders are common in people with Parkinson’s disease (PD) yet their associations with activity limitations remain poorly understood. The objective of this review is to investigate the relationships between gait impairments and activity limitations in people with idiopathic PD. Six electronic databases (MEDLINE ISI, CINAHL, Web of Science ISI, EMBASE, PsycINFO and Scopus) were systematically searched using relevant terms to source for English-language studies published between 1900 and January 2011. Only studies that reported associations between impairments and activity limitations were considered for the review. The methodological quality of eligible studies was evaluated using a customized checklist by two independent reviewers. Data on participant characteristics, disease severity and associations between variables were extracted using a standardized data extraction form. Correlation coefficients were transformed to standardized scores and pooled using the fixed or random effects models. 16 of the 1735 studies screened were included, comprising 1882 participants. Large effect sizes were found between postural instability measured by the Berg Balance scale and activity limitation measured by the Unified Parkinson’s Disease Rating Scale Activities of Daily Living (UPDRS ADL) section (−0.81; 95% CI, −0.99 to −0.63; p < 0.001). Gait hypokinesia measured by gait speed was significantly correlated with UPDRS ADL (−0.41; 95% CI, −0.56 to −0.26; p < 0.001). Gait freezing measured by the Freezing of Gait Questionnaire was associated with reduction in ADL (0.45; 95% CI, 0.36 to 0.54; p < 0.001). Knowledge of gait disturbances and their associations with disability may help to guide clinicians in assessing patients to optimize functional outcomes.

Hemiballismus: Current concepts and review

Jason S. Hawley, William J. Weiner — 2011-09-19

Abstract: Hemiballism is a rare movement disorder characterized by a high amplitude movement of an entire limb or limbs on one side of the body. The acute development of hemiballismus is often caused by focal lesions in the contralateral basal ganglia and STN. Many etiologies exist for this rare disorder with vascular causes and nonketotic hyperglycemia being the most common. Clearer understanding of the pathophysiology of hemiballism has led to important insights into the function and interaction of structures within the basal ganglia. Newer models of basal ganglia function have been proposed based on the study of the pathophysiology of hemiballism. Prognosis is favorable for most patients with complete resolution with or without treatment. Medical and surgical treatments are often successful in reducing or completely ameliorating the movements in those patients with more severe movements.

Loss of ability to work and ability to live independently in Parkinson’s disease

2011-10-05

Abstract: Objective: Ability to work and live independently is of particular concern for patients with Parkinson’s disease (PD). We studied a series of PD patients able to work or live independently at baseline, and evaluated potential risk factors for two separate outcomes: loss of ability to work and loss of ability to live independently.Methods: The series comprised 495 PD patients followed prospectively. Ability to work and ability to live independently were based on clinical interview and examination. Cox regression models adjusted for age and disease duration were used to evaluate associations of baseline characteristics with loss of ability to work and loss of ability to live independently.Results: Higher UPDRS dyskinesia score, UPDRS instability score, UPDRS total score, Hoehn and Yahr stage, and presence of intellectual impairment at baseline were all associated with increased risk of future loss of ability to work and loss of ability to live independently (P ≤ 0.0033). Five years after initial visit, for patients ≤70 years of age with a disease duration ≤4 years at initial visit, 88% were still able to work and 90% to live independently. These estimates worsened as age and disease duration at initial visit increased; for patients >70 years of age with a disease duration >4 years, estimates at 5 years were 43% able to work and 57% able to live independently.Conclusions: The information provided in this study can offer useful information for PD patients in preparing for future ability to perform activities of daily living.

Voxel-based magnetic resonance imaging study of structural brain changes in patients with idiopathic REM sleep behavior disorder

2011-09-19

Abstract: Purpose: Rapid eye movement (REM) sleep behavior disorder (RBD) is considered to result from dysfunction of the brain stem structures that regulate REM sleep. In this study, we investigated structural brain changes using magnetic resonance imaging (MRI) in patients with idiopathic RBD (iRBD) to determine structural brain alterations associated with the disorder.Methods: Voxel-based MRI morphometry was applied to 20 patients with iRBD and findings were compared with those from 18 age-matched controls.Results: Compared with the controls, the patients with iRBD had significant gray matter volume reduction in the anterior lobes of the right and left cerebellum, tegmental portion of the pons, and left parahippocampal gyrus.Conclusion: The present study provides in vivo evidence suggesting that structural lesions of the brain stem are responsible for the occurrence of iRBD. In addition, the pattern of gray matter loss is consistent with morphological changes commonly observed in patients with Lewy body disease and multiple system atrophy, indicating that iRBD can share a common morphological abnormality with alpha-synucleinopathies.

Brain-derived neurotrophic factor (BDNF) genetic polymorphism greatly increases risk of leucine-rich repeat kinase 2 (LRRK2) for Parkinson's disease

Jia Liu, Yongtao Zhou, Chaodong Wang, Tao Wang, Zheng Zheng, Piu Chan — 2011-09-19

Abstract: Parkinson's disease (PD) is a complex neurodegenerative disorder. Although the p.G2385R allele of leucine-rich repeat kinase 2 (LRRK2) has been recently reported as a common genetic variant that increases the risk for typical PD exclusively among Asian population, its genetic modifiers is yet to be studied. Brain-derived neurotrophic factor (BDNF) has been shown to play an important role in the survival of dopaminergic neurons and its genetic polymorphism was associated with an increased risk for PD at an older age onset. The current case–control study was performed to investigate the interaction between LRRK2 p.G2385R and BDNF p.V66M in a Chinese PD cohort. A total of 464 PD patients and 549 controls were involved in this study. LRRK2 p.G2385R variant (odds ratio [OR] = 3.2; 95% confidence interval [CI] = 1.96–5.15, p < 0.0001), not BDNF p.V66M alone significantly increased the risk of PD. However, the simultaneous presence of both LRRK2 and BDNF variants significantly enhanced the risk for PD (OR = 4.033; 95% CI = 2.188–7.435, p < 0.0001), particularly in patients with an onset age of older than 60 (OR = 6.439; 95% CI = 3.096–13.389, p < 0.0001). Our results further support that LRRK2 variants are an independent genetic risk factor for typical PD, but BDNF variants can greatly increase LRRK2-induced risk for patients with an onset age of older than 60 indicating an additive effect between the 2 genes, which might aid in studying the mechanism underlying LRRK2 parkinsonism and developing potential therapeutic strategies.

Appreciation of humor is decreased among patients with Parkinson’s disease

2011-10-17

Abstract: Objective: To test whether appreciation of humor might be a non-motor function affected by Parkinson’s disease (PD).Methods: Thirty-nine PD patients and 38 healthy controls participated in this study. Appreciation of humor and effect of the presentation method utilized were assessed. Sense of humor was evaluated by the sense of humor questionnaire (SHQ-6). Humor appreciation was tested using three methods of presentation: videos, audio sketches and pictorial cartoons, each portraying both obvious and non-obvious humor content. Depression, anxiety, cognition, disease severity and quality of life were measured by standardized questionnaires and correlated with humor outcomes.Results: Patients with PD rated humor content lower than controls on every method of presentation as well as on the SHQ-6 (p = 0.004). The greatest between-group difference was noted when the material was presented visually via pictorial cartoons (p < 0.0001). In addition, obvious humor content was rated higher than non-obvious content by the PD group in all three presentation methods (p < 0.05). The degree of depression and anxiety did not influence these results.Conclusions: Patients with PD have a decreased sense of humor compared to healthy controls. Utilizing audio methods of presentation and humor in an obvious mode appears to be the preferred approach for eliciting responses to humor in a PD population.

Freezer or non-freezer: Clinical assessment of freezing of gait

2011-10-04

Abstract: Introduction: Freezing of gait (FOG) is both common and debilitating in patients with Parkinson's disease (PD). Future pathophysiology studies will depend critically upon adequate classification of patients as being either ‘freezers’ or ‘non-freezers’. This classification should be based ideally upon objective confirmation by an experienced observer during clinical assessment. Given the known difficulties to elicit FOG when examining patients, we aimed to investigate which simple clinical test would be the most sensitive to provoke FOG objectively.Methods: We examined 50 patients with PD, including 32 off-state freezers (defined as experiencing subjective ‘gluing of the feet to the floor’). Assessment including a FOG trajectory (three trials: normal speed, fast speed, and with dual tasking) and several turning variants (180° vs. 360° turns; leftward vs. rightward turns; wide vs. narrow turning; and slow vs. fast turns).Results: Sensitivity of the entire assessment to provoke FOG in subjective freezers was 0.74, specificity was 0.94. The most effective test to provoke FOG was rapid 360° turns in both directions and, if negative, combined with a gait trajectory with dual tasking. Repeated testing improved the diagnostic yield. The least informative tests included wide turns, 180° turns or normal speed full turns. Sensitivity to provoke objective FOG in subjective freezers was 0.65 for the rapid full turns in both directions and 0.63 for the FOG trajectory.Discussion: The most efficient way to objectively ascertain FOG is asking patients to repeatedly make rapid 360° narrow turns from standstill, on the spot and in both directions.

Impulse control disorders and depression in Finnish patients with Parkinson's disease

Juho Joutsa, Kirsti Martikainen, Tero Vahlberg, Valerie Voon, Valtteri Kaasinen — 2011-10-10

Abstract: Introduction: Impulse control disorders occur frequently in patients with Parkinson's disease. However, the frequencies have been investigated mainly in patients from secondary or tertiary care centers, and thus, the prevalence rates in general community are not known.Objective: Our objective was to study the prevalence rates of impulse control disorders and related factors in a large, non-selected sample of Parkinson's disease patients.Methods: We conducted a cross-sectional survey among Parkinson's disease patients from Finnish Parkinson Association [n = 575; 365 men, 240 women, median age 64 (range 43–90) years]. Problem and pathological gambling were estimated with the South Oaks Gambling Screen, risk for impulse control disorders with the validated Questionnaire for Impulsive–Compulsive Disorders in Parkinson's Disease, and depression with the Beck Depression Inventory.Results: The frequency of pathological gambling was 7.0%. The overall frequency of a positive screen for an impulse control disorder was 34.8%, and 12.5% of the patients screened positive for multiple disorders. Depressive symptoms were statistically the most important factor in explaining variance in impulse control disorder risk, even more than sex, age, age of disease onset, alcohol use, or medication.Conclusions: The high proportion of patients screened positive for impulse control disorders in a non-selected sample emphasize the importance of routine screening of these disorders in Parkinson's disease. Pathological gambling prevalence in Parkinson's disease is seven times higher than in the general population in Finland. The results underline the importance of depression in impulse control disorders associated with Parkinson's disease.

Cognitive impairment is common in Parkinson’s disease without dementia in the early and middle stages in a Han Chinese cohort

2011-10-05

Abstract: Background: Cognitive impairments have been reported to be common in Parkinson’s disease (PD) without dementia, which occur not only in the late stages of PD, but also in the early and middle stages. Until now, no reports on the profile of cognitive impairment in Chinese non-demented PD population have been published yet. Different ethnic groups should be assessed to improve evaluation of cognitive impairment in clinical practice. The aims of this study are to estimate the frequencies and profile of cognitive impairments and to explore the risk factors of cognitive impairments in Han Chinese non-demented PD patients at early and middle stages.Methods: Eighty non-demented PD patients in early and middle stages and 86 healthy controls were invited to participate in this study. Neuropsychological batteries testing executive function, visuospatial function, memory and attention were evaluated. Cognitive impairments were defined as impaired performance in at least one cognitive domain.Results: Neuropsychological batteries detected 30 cases with executive dysfunction, 27 cases with memory impairment, eight cases with visuospatial dysfunction and seven cases with attention impairment. As many as 48 cases (60%) of PD patients presented cognitive impairment. Logistic regression analysis indicated that education level and Hoehn & Yahr stage were associated with cognitive impairment in PD.Conclusions: Cognitive impairment is common in the early and middle stages of PD without dementia; executive function is the most common domain impaired in a Chinese PD population. Cognitive impairment might be predicted by lower education level and higher Hoehn and Yahr stage.

Clinical and genetic characteristics in patients with Huntington’s Disease from Argentina

2011-10-03

Abstract: Huntington’s Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG)n in the HTT gene. There is scarce data about the disease in Argentina.Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina.Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon).Results: 32 women and 27 men were diagnosed with a mean age of 45.7 ± 16.2 years and a mean age at onset of 35.8 ± 14.8 years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r = −0.58, r2 = 33.6, Pearson’s correlation coefficient p = 0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population.Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.

The Senior Fitness Test as a functional measure in Parkinson’s disease: A pilot study

J.M. Cancela, C. Ayán, A. Gutiérrez-Santiago, I. Prieto, S. Varela — 2011-10-04

Abstract: Objective: This pilot study aimed to determine if the Senior Fitness Test (SFT) battery can be applied to subjects with Parkinson’s disease (PD) and whether its results can be reliable indicators of disease severity.Methods: Thirty people with mild to moderate PD performed the SFT and completed the Parkinson’s Disease Questionnaire (PDQ-39) and the Unified Parkinson’s Disease Rating Scale (UPDRS). To compare the metric properties of the SFT battery with the UPDRS and the PDQ-39, a SFT sum-score was created.Results: The tests that compose the SFT were successfully completed by the patients, except for the “Two-Minute Step Test” (2MST), which had to be shortened. We observed a strong correlation among the SFT’s sum-score and the total scores of the PDQ-39 and the UPDRS. Some correlation was also found among the SFT’s sum-score and the analyzed subscales, except for those assessing mental and cognitive levels.Conclusion: The SFT appears to be a useful tool to assess functional fitness in people with PD: it can be carried out in the clinical setting albeit with some minor modifications. However, its validity as an indicator of disease severity remains to be confirmed.

What determines resilience in patients with Parkinson's disease?

2011-10-05

Abstract: Objective: To investigate the relationship of resilience to disease severity, disability, quality of life (QoL) and non-motor symptoms in Parkinson's disease (PD). A secondary objective was to investigate whether resilience is distinct from other personality domains in PD.Background: Resilience is the ability to reestablish emotional equilibrium in the face of adversity. It may play a pivotal role in disability and quality of life and has not been studied in PD.Methods: 83 PD patients (Age 66.3 ± 10.6, Total Unified Parkinson's Disease Rating Scale (T-UPDRS) 36.9 ± 17.8) completed the Resilience Scale 15 (RS-15). Scales measuring disability, mental and physical health-related QoL, non-motor symptoms (depression, anxiety, somatization, apathy, fatigue), and personality domains were completed. Pearson's correlations were analyzed between these scales and the RS-15.Results: Greater resilience correlated with less disability (r = −.30, p = .01), and better physical and mental QoL (r = .31, p .05). Among non-motor symptoms and personality domains, resilience strongly correlated with less apathy (r = −.66), less depression (r = −.49), and more optimism (r = .54, all p < .001). Moderate correlations were seen between more resilience, reduced fatigue (r = −.40) and anxiety (r = −.34; both p < .001).Conclusions: Resilience correlated with less disability and better QoL but not with PD severity. Resilience was also highly associated with both non-motor symptoms (less apathy, depression, fatigue) and a personality domain (more optimism). The role of resilience in helping patients adapt to living with symptoms of chronic disease may explain its lack of correlation with PD severity.

Istradefylline for Parkinson's disease patients experiencing motor fluctuations: Results of the KW-6002-US-018 study

2011-10-14

Abstract: Background: Istradefylline (KW-6002) is a selective adenosine A2A receptor antagonist investigated as adjunctive therapy to levodopa in PD patients with motor response complications. In Phase 2b/3 studies, Istradefylline reduced OFF time without worsening troublesome dyskinesia and was well tolerated.Methods: A randomized, 12-week, double-blind, placebo-controlled parallel-group study evaluated the efficacy of 10, 20, and 40 mg/day of Istradefylline in patients on levodopa therapy with motor response complications. The primary outcome measure was change from baseline to endpoint in the percentage of awake time/day spent in the OFF state as determined by patient diary.Results: Six hundred and ten patients were randomized. Five hundred and eighty four patients were included in the Intent-to-treat (ITT) group—146 placebo patients and 149 in the 10 mg, 144 in the 20, and 145 patients in the 40 mg Istradefylline groups. Baseline demographics were similar between groups. Treatment cohorts had been diagnosed an average of 9 years diagnosis and 3.6 years from the onset of motor fluctuations; at baseline they had an average of 6.7 h of OFF time and an average UPDRS motor score of 22 when ON. At endpoint, the amount and percentage of OFF time did not differ between Istradefylline and placebo, however a dose-ordering response was observed. Changes from baseline in the UPDRS motor score in the on state for the 40 mg were modest but significant compared to placebo (2.9 vs. 0.8; p < 0.05).Conclusions: Although Istradefylline did not impact OFF time duration, it significantly improved motor score at 40 mg/day.

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

2011-10-17

Abstract: Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3) may rarely presents a parkinsonian phenotype. Considering that mutations in the glucocerebrosidase (GBA) gene have been associated with Parkinson disease, we investigated whether these would be more prevalent in MJD/SCA3 patients with parkinsonian manifestations than in those without them.Methods: MJD/SCA3 patients with parkinsonian features were identified and compared to relatives and to a MJD/SCA3 control group with no such features. The GBA gene was sequenced and, in a subset of patients and in normal volunteers, GBA enzyme activity was measured.Results: We have identified nine index MJD/SCA3 patients with parkinsonian manifestations. Overall, GBA sequence variations were found in 3/9 MJD/SCA3 index cases with parkinsonian manifestations (33%) and in 0/40 MJD/SCA3 controls without parkinsonism (p=0.03, Fisher exact test). The GBA sequence variations found were p.K(-27)R, p.E326K, and p.T369M. The latter two sequence variations were also found in two symptomatic relatives with no parkinsonian manifestations. A MJD/SCA3 relative belonging to the first positive pedigree and carrier of the p.K(-27)R mutation also presented parkinsonian manifestations. GBA activity in MJD/SCA3 patients was similar to those found in the normal control group.Conclusion: Sequence variations at the GBA gene may play a role as a minor, modifying gene of MJD/SCA3 phenotype. This hypothetical role was not related to changes in GBA activity in peripheral leukocytes.

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

2011-10-24

Abstract: We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs. By exome sequencing, we found a homozygous five-nucleotide deletion (c.448_452delAGAAC) in gene Sepiapterin Reductase (SPR). The mutation is predicted to lead to premature translational termination. Sepiapterin reductase deficiency (SRD) is a recently recognized dopa-responsive dystonia. Our findings show that SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease.

Complaints about impairments in executive functions in Parkinson's disease: The association with neuropsychological assessment

2011-10-17

Abstract: Impairments in executive functions are frequently reported in Parkinson's disease (PD). However, little is known about patients' experience regarding these impairments. This knowledge is crucial because if patients do not experience their cognitive impairments they do not report them to their attending neurologist. Consequently, patients might not get appropriate treatment. This study investigated if patients with a mild to moderate PD experience impairments in executive functions in daily life and whether these correspond with impairments as measured in neuropsychological assessments.Forty-three PD patients and 25 healthy participants were included. Groups did not differ in age, sex and education. All participants and their closest relatives completed a standardized questionnaire measuring executive functions in daily life. Furthermore, all participants were assessed with a test battery measuring executive functions.PD patients reported significantly more problems with executive functions in daily life than healthy participants. Furthermore, co-morbid depression had a negative impact on the number of problems with executive functions in daily life as reported by PD patients. The experienced daily life problems in executive functions were not associated with the patients' performance on objective cognitive measures.In conclusion, PD patients were aware of problems with executive functions in daily life and reported considerably more problems than healthy controls. These problems were however not reflected by neuropsychological tests and may indicate a lack of ecological validity of neuropsychological assessment.

Apathy and impulse control disorders in Parkinson’s disease: A direct comparison

2011-10-31

Abstract: Background: Apathy and impulse control disorders (ICDs) in Parkinson’s disease (PD) are clinically important complications and may exist on a common behavioral spectrum of disorders of reward and motivation.Objective: To directly compare PD participants with apathy those with ICDs on range of demographic, neurologic and psychiatric measures.Methods: Ninety-nine non-demented PD participants (ICD, n = 35; apathy, n = 26; and controls, n = 38) were assessed in the study. Univariate statistics were used to compare the behavioral groups. A linear regression model was created with either apathy or impulsivity as the dependent variable.Results: The two behavioral groups differed significantly from the PD control group on similar factors but in opposite directions. The apathy group was older at the time of both assessment and disease onset, had higher levels of depression and lower dopamine agonist use, compared to the other two groups. The ICD group was younger than the apathy group at disease onset and had higher levels of anxiety, a higher overall dopamine load and greater motor disease complexity. Overlap in behavioral pathology across the two groups was also noted.Conclusion: Apathy and ICDs may be on a common behavioral spectrum in PD. Both are associated with significant psychiatric morbidity supporting shared underlying pathology.

Parakinesia brachialis oscitans: Report of three cases

Plínio M.G. de Lima, Renato P. Munhoz, Nilson Becker, Hélio A.G. Teive — 2011-10-24

Abstract: The term ‘parakinesia brachialis oscitans’ (PBO) was coined recently to describe cases of hemiplegia in which spontaneous yawning causes involuntary raising of the affected upper limb. The authors report three additional cases of PBO adding new phenomenological findings to the syndrome, discussing possible physiopathology of this phenomenon.

Transdermal rotigotine causes impulse control disorders in patients with restless legs syndrome

S.R. Schreglmann, A.R. Gantenbein, G. Eisele, C.R. Baumann — 2011-10-28

Abstract: Introduction: Dopaminergic drugs are the mainstay of treatment for restless legs syndrome (RLS). We analyzed the frequency and clinical characteristics of impulse control disorders (ICD) in patients with RLS on transdermal rotigotine treatment. Methods: Retrospective case series at a university movement disorder clinic (n = 28, 17 women). Symptoms of ICD were assessed via detailed history taking and scoring with the Zurich Screening Questionnaire for ICD (ZICD) prior to and after initiation of treatment. Results: None of the patients had a history of ICD prior to treatment. Baseline mean scores for patients who did (8.0 ± 2.5) and did not (6.2 ± 2.7) develop ICD under treatment did not differ. Six male patients (21%) developed various symptoms of ICD (mean ZICD scores 20.7 ± 10.2) on rotigotine treatment (mean dose: 3.8 mg/d), including binge eating, hypersexuality, compulsive shopping, pathological gambling, and punding, equaling a prevalence rate of 21%. Also in the non-ICD group, ZICD scores increased (7.5 ± 2.8). Conclusion: This is the first report of ICD in patients treated with transdermal rotigotine for RLS. In contrast to literature, even low doses of rotigotine (mean 3.8 mg/d) can cause ICD. Therefore every prescribing physician should be aware that ICD may emerge in both RLS and PD patients on any dopaminergic treatment, and should actively ask for such symptoms. The ZICD questionnaire not only replicated the findings of detailed history taking but also showed an increased tendency towards impulsive behaviour in subjects that did not develop ICD.

Diffuse cortical hypometabolism on 18F-FDG-PET scan in a case of an adult variant cerebello–brainstem dominant form of ALD manifesting dementia

Jung Eun Kim, Kyong Gyu Choi, Jee Hyang Jeong, Hee Jin Kang, Hyun Sook Kim — 2011-09-12

Adrenoleukodystrophy (ALD) is an X-linked recessive disorder, which causes diffuse demyelination and adrenocortical insufficiency in the central nervous system. Its diagnosis is made by demonstrating increased levels of very-long-chain fatty acids (VLCFAs) in plasma and cultured skin fibroblasts. Most cases appear in either childhood or adolescence as a devastating degenerative disorder that leads to major neurological deterioration and death within a few years. However, many phenotypical variants of ALD, including either a cerebello–brainstem dominant form or an ataxic form, have been reported. In the cerebello–brainstem dominant form, the brainstem and the cerebellum are prominently damaged, and there have been rare reports of the initial presentation of diffuse cortical dysfunction in these patients . We performed serial brain magnetic resonance imaging (MRI) and 18F-fluoro-2-deoxyglucose-positron emission tomography (18F-FDG-PET) in a patient with the cerebello–brainstem variant form of adult ALD. In this article, we discuss the unknown pathophysiology of this rare phenotype of ALD. We received informed written consent from this patient and his wife for ethical approval.

Spinal cord stimulation for chronic pain improved motor function in a patient with Parkinson’s disease

2011-08-24

Spinal cord stimulation (SCS) is a validated therapy for various chronic pain syndromes that was recently shown to improve locomotor behaviour in rodent model of Parkinson’s disease (PD) . We report herein the antiparkinsonian effect of SCS in a patient implanted for lower limb neuropathic pain who later developed PD.