Advertisement

Deep brain stimulation in dopa-responsive parkinsonism – Look out for red flags

      Highlights

      • It is important to look for red flags in a patient suspected to have PD especially when DBS is being considered.
      • This report highlights the dopa-responsive parkinsonism presentation as a part of the AP5Z1 clinical spectrum.
      • The SPG11 and SPG15 proteins are known to interact with AP-5 suggesting a common molecular mechanism at work with AP5Z1-related SPG48.
      • Dopa-responsive parkinsonism is reported in SPG11 and SPG15 as well.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Parkinsonism & Related Disorders
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Postuma R.B.
        • Berg D.
        • Stern M.
        • Poewe W.
        • Olanow C.W.
        • Oertel W.
        • et al.
        MDS clinical diagnostic criteria for Parkinson's disease.
        Mov. Disord. 2015; 30: 1591-1601
        • Okun M.
        • Fernandez H.
        • Pedraza O.
        • Misra M.
        • Lyons K.
        • Pahwa R.
        • et al.
        Development and initial validation of a screening tool for Parkinson disease surgical candidates.
        Neurology. 2004; 63: 161-163
        • Franco G.
        • Lazzeri G.
        • Di Fonzo A.
        Parkinsonism and ataxia.
        J. Neurol. Sci. 2021; 120020
        • Munhoz R.P.
        • Picillo M.
        • Fox S.H.
        • Bruno V.
        • Panisset M.
        • Honey C.R.
        • et al.
        Eligibility criteria for deep brain stimulation in Parkinson's disease, tremor, and dystonia.
        Can. J. Neurol. Sci. 2016; 43: 462-471
        • Kuusimäki T.
        • Korpela J.
        • Pekkonen E.
        • Martikainen M.H.
        • Antonini A.
        • Kaasinen V.
        Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
        J. Neurol. 2020 Apr; 267: 883-897
        • Artusi C.A.
        • Rinaldi D.
        • Balestrino R.
        • Lopiano L.
        Deep brain stimulation for atypical parkinsonism: a systematic review on efficacy and safety.
        Park. Relat. Disord. 2022 Mar; 96: 109-118
        • Slabicki M.
        • Theis M.
        • Krastev D.B.
        • Samsonov S.
        • Mundwiller E.
        • Junqueira M.
        • et al.
        A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
        PLoS Biol. 2010 Jun 29; 8e1000408
        • Hirst J.
        • Barlow L.D.
        • Francisco G.C.
        • Sahlender D.A.
        • Seaman M.N.
        • Dacks J.B.
        • et al.
        The fifth adaptor protein complex.
        PLoS Biol. 2011; 9e1001170
        • Hirst J.
        • Madeo M.
        • Smets K.
        • Edgar J.R.
        • Schols L.
        • Li J.
        • et al.
        Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
        Neurol. Genetic. 2016 Oct; 2: e98
        • Breza M.
        • Hirst J.
        • Chelban V.
        • Banneau G.
        • Tissier L.
        • Kol B.
        • et al.
        Expanding the spectrum of AP5Z1-related hereditary spastic paraplegia (HSP-SPG48): a multicenter study on a rare disease.
        Mov. Disord. 2021 Apr; 36: 1034-1038
        • Araujo F.M.M.
        • Junior W.M.
        • Tomaselli P.J.
        • Pimentel A.V.
        • Macruz Brito M.C.
        • Tumas V.
        SPG15: a rare correlation with atypical juvenile parkinsonism responsive to levodopa.
        Mov. Disord Clin. Pract. 2020 Oct; 7: 842-844