Literature DB >> 3081350

Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.

C E Oates, E P Bosch, M N Hart.   

Abstract

A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis.

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Year:  1986        PMID： 3081350     DOI： 10.1159/000116100

Source DB:  PubMed          Journal:  Eur Neurol        ISSN： 0014-3022            Impact factor:   1.710


  8 in total

Review 1.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

Review 2.  Diagnosis and treatment of chorea syndromes.

Authors:  Andreas Hermann; Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2015       Impact factor: 5.081

3.  Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.

Authors:  M Mondelli; A Rossi; S Palmeri; N Rizzuto; A Federico
Journal:  Ital J Neurol Sci       Date:  1989-08

Review 4.  Differential diagnosis of chorea.

Authors:  Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

Review 5.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

6.  Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Authors:  Mustafa A Salih; Mohammed Z Seidahmed; Heba Y El Khashab; Muddathir H A Hamad; Thomas M Bosley; Sabrina Burn; Angela Myers; Megan L Landsverk; Patricia L Crotwell; Kaya Bilguvar; Shrikant Mane; Michael C Kruer
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2015-07-09

7.  The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Authors:  Camilo Toro; Mosufa Zainab; Cynthia J Tifft
Journal:  Neurosci Lett       Date:  2021-08-25       Impact factor: 3.046

8.  The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Authors:  Darius Ebrahimi-Fakhari; Clara Hildebrandt; Peter E Davis; Lance H Rodan; Irina Anselm; Olaf Bodamer
Journal:  Mov Disord Clin Pract       Date:  2017-12-10
  8 in total

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