[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibroblasts. GM2-gangliosidosis, variant O (Sandhoff disease) was diagnosed. Mechano-allodynia was the presenting symptom in two of the patients. After 50 years of disease evolution, the patients led an independent life and were intellectually normal. The literature on the adult form of GM2-gangliosidosis is reviewed.
Schnorf
H
H
Neurologische Klinik, Universitätsspital Zürich.
Bosshard
N U
NU
Gitzelmann
R
R
Spycher
M A
MA
Isler
P
P
Waespe
W
W
D000368:Aged; D001921:Brain / Q000473:pathology; D005260:Female; D054818:Hexosaminidase A; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009431:Neural Conduction; D012497:Sandhoff Disease / Q000175:diagnosis* / Q000201:enzymology; D012867:Skin / Q000648:ultrastructure; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases
Adulte Form der GM2-Gangliosidose: drei Geschwister mit Hexosaminidase-A- und -B-Mangel (Morbus Sandhoff) und Literaturübersicht.