Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases

Movement Disorders : Official Journal of the Movement Disorder Society
Uday MuthaneSrikanth Subbamma Govindappa

Abstract

Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. Patients with adult GM1 gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult GM1 gangliosidosis to help improve its recognition. We report 3 Indian patients and review of reports between 1981 and October 2002. The disease frequently is reported in the Japanese literature (75%). Patients are normal at birth and have normal early motor and mental development. Onset is within the first decade with abnormal gait, or worsening of speech is an initial symptom. Dystonia occurs in 97% of patients. Facial dystonia described as "facial grimacing" observed in approximately 90% could be an important clinical clue. Dysarthria/anarthria (97%) is frequent, and eye movements are normal. Bone marrow examination may show Gaucher-like foam cells (39%). Magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density images. Diagnosis is confirmed by demonstrating deficiency of beta-galactosidase. Adult (Type 3) GM1 Gangliosidosis commonly presents with generalized dystonia with prominent facial dystonia, severe speech disturb...Continue Reading

References

Dec 1, 1992·Acta Neurologica Scandinavica·E UyamaM Ando
Jan 1, 1992·Movement Disorders : Official Journal of the Movement Disorder Society·L SudarskyD M Dawson
Oct 1, 1985·Neurology·K OhtaT Miyatake
Dec 1, 1985·Journal of the Neurological Sciences·M UshiyamaT Katsuyama
Mar 1, 1995·Movement Disorders : Official Journal of the Movement Disorder Society·P GreeneS Fahn
Oct 3, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Jaume CampdelacreuEduardo Tolosa

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Citations

Jun 20, 2008·Journal of Inherited Metabolic Disease·F SedelM Vidailhet
Oct 1, 2010·Brain : a Journal of Neurology·Marjan E SteenwegMarjo S van der Knaap
Apr 1, 2008·Annals of Indian Academy of Neurology·Rita Christopher, Bindu P Sankaran
May 1, 2009·Journal of Movement Disorders·Chi Kyung Kim, Beom S Jeon
Aug 8, 2014·Molecular Neurobiology·Hao DengJoseph Jankovic
Mar 21, 2012·Nature Reviews. Neurology·Kelly L Bertram, David R Williams
Jan 6, 2007·Clinical Genetics·E BrusseJ C van Swieten
Feb 3, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderJohn Hardy
Jun 30, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Emmanuel RozeAnne Roubergue
Dec 10, 2015·American Journal of Medical Genetics. Part a·Debra S RegierCynthia J Tifft
Dec 5, 2019·Brain : a Journal of Neurology·Hugo Morales-BriceñoVictor S C Fung
Mar 1, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Tim MoorsWilma D J van de Berg
May 28, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Tamar ShacharAnthony H Futerman
Aug 9, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Jennifer Müller Vom HagenLudger Schöls
Sep 10, 2019·JIMD Reports·Luciana GiuglianiRoberto Giugliani
Apr 16, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Connie MarrasChristine Klein
Jun 4, 2017·Metabolic Brain Disease·Federica DeodatoMaurizio Scarpa
Nov 21, 2017·Translational Science of Rare Diseases·Carlos R Ferreira, William A Gahl
Oct 30, 2018·Frontiers in Neurology·Nattakarn LimphaiboolKatarzyna Perkowska
Jun 23, 2018·Movement Disorders Clinical Practice·Darius Ebrahimi-FakhariOlaf Bodamer
Mar 20, 2021·Journal of Medical Genetics·Abdellah TebaniSoumeya Bekri
Apr 17, 2021·The Application of Clinical Genetics·Allisandra K RhaDouglas R Martin
Jun 22, 2021·Frontiers in Neurology·Sophia R L Vieira, Huw R Morris
Nov 1, 2019·Clinical Parkinsonism & Related Disorders·Sahil MehtaVivek Lal
Aug 18, 2021·Movement Disorders Clinical Practice·Eoin MulroyKailash P Bhatia

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