Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
GM1 gangliosidosis is due to beta-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.
Roze
Emmanuel
E
Department of Neurology, Saint-Antoine Hospital AP-HP Paris, France. emmanuel.roze@sat.aphp.fr
Paschke
Eduard
E
Lopez
Nathalie
N
Eck
Thomas
T
Yoshida
Kunihiro
K
Maurel-Ollivier
Annie
A
Doummar
Diane
D
Caillaud
Catherine
C
Galanaud
Damien
D
Billette de Villemeur
Thierry
T
Vidailhet
Marie
M
Roubergue
Anne
A
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D004421:Dystonia / Q000175:diagnosis / Q000209:etiology*; D005091:Exons / Q000235:genetics; D005260:Female; D016537:Gangliosidosis, GM1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D020734:Parkinsonian Disorders / Q000209:etiology*; D017354:Point Mutation / Q000235:genetics; D011859:Radiography; D014743:Videotape Recording; D001616:beta-Galactosidase / Q000172:deficiency / Q000235:genetics
C061901:GLB1 protein, human; D001616:beta-Galactosidase