- Cerebellar ataxia and parkinsonism are two common overlapping clinical syndromes in patients with spinocerebellar ataxia. We report a case mimicking the phenotype of early-onset Parkinson's disease with a candidate novel de novo mutation (c.1151A>G, p.K384R) in PRKCG, a gene known to cause spinocerebellar ataxia type 14.
- Despite substantial clinical and pathophysiological differences, the characteristics of tremor in Parkinson's disease (PD) and essential tremor (ET) patients bear certain similarities. The presented study delineates tremor-related structural networks in these two disorders.
- VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson’s disease (PD). Moreover, recent studies linked biallelic VPS13C mutations with the development of dementia with Lewy bodies (DLB). Neuropathological studies on two mutated subjects showed diffuse Lewy body disease. In this article, we report the clinical and genetic findings of two subjects affected by early-onset PD carrying three novel VPS13C mutations (i.e., one homozygous and one compound heterozygous), and review the previous literature on the genetic and clinical findings of VPS13C-mutated patients, contributing to the knowledge of this rare genetic alpha-synucleinopathy.
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles.
- Neurological disorders comprise a large group of clinically and genetically heterogeneous disorders, many of which have a genetic cause. In addition to a detailed neurological examination, exome sequencing is being increasingly used as a complementary diagnostic tool to identify the underlying genetic cause in patients with unclear, supposedly genetically determined disorders.
- Shaking on standing is a highly disabling syndrome caused by different disorders . Differential diagnosis heavily relies on electrophysiology. High-frequency tremor (>13 Hz) of the legs when standing is the hallmark of classic orthostatic tremor (OT). Alternatively, other mimics should be considered . Hereditary spastic paraplegias (HSP) are a heterogeneous group of inherited neurological disorders with the cardinal feature of a corticospinal motor neurons dysfunction, classified as either pure or complex based on the absence or presence, respectively, of associated signs .
- Patients with Wilson's disease (WD) may show various ocular motor abnormalities, but selective slowing of downward saccades has not been described .
- Primary progressive freezing gait (PPFG) is a clinical syndrome underlain by diverse neurodegenerative diseases and characterized by early occurrence of gait freezing. Either degeneration or integrity of the nigrostriatal terminals have been found by SPECT and PET studies. In this retrospective study, we evaluated 123I-FP-CIT SPECT findings in a consecutive series of 13 PPFG patients with detailed clinical evaluation over time (mean follow-up duration: 3.1 ± 1.2 years). In all patients, 123I-FP-CIT SPECT has been performed at the time of first clinical evaluation (1.7 ± 1.4 years after disease onset) and was compared with data from 23 age- and sex-matched healthy subjects.
- Dystonia may be classified as focal, segmental or generalized; or according to the etiology either primary or secondary. The latter classification is used to identify the response to different treatments. According to the literature, primary dystonia is moderately responsive to deep brain stimulation, while the results in secondary are disappointing. Secondary dystonia commonly presents as hemidystonia; and is often refractory to medical and surgical treatments . Herein, the authors describe successful and sustained long-term results in a patient with disabling hemidystonia after a unilateral stereotactic lesion in the zona incerta (ZI); revisiting an old target for a hard-to-treat disorder.