A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties

Clinical Neurology

Volumn 47, Issue 1, 2007, Pages 37-41

  Takado, Yuhei ^a,d   Koide, Takashi ^a,e   Yoshikawa, Kenjiro ^a   Amaya, Nobutada ^b   Yoshida, Yasuji ^c   Ishiguro, Hideaki ^a  

^a AKITA RED CROSS HOSPITAL   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c RESEARCH INSTITUTE FOR BRAIN AND BLOOD VESSELS AKITA   (Japan)

^d NIIGATA UNIVERSITY   (Japan)

^e Hiratsuka City Hospital   (Japan)

Author keywords

GM2 gangliosidosis; Hexosaminidase; Motor neuron disease; Sandhoff disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; DISEASE COURSE; ENZYME ACTIVITY; GM2 GANGLIOSIDOSIS; HUMAN; HYPERREFLEXIA; LEUKOCYTE; MALE; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; SANDHOFF DISEASE; BRAIN; DIFFERENTIAL DIAGNOSIS; MIDDLE AGED; PATHOLOGY;

BRAIN; DIAGNOSIS, DIFFERENTIAL; GANGLIOSIDOSES, GM2; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOTOR NEURON DISEASE;

EID: 34248669610     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Hara A, Uyama E, Uchino M, et al: Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case. J Neurol Sci 1998; 155: 86-91
2. Japanese source
3. Japanese source
4. David M, Wolfe LS, Anderman E, et al: Juvenile progressive dystonia. Ann Neurol 1984; 15: 348-352
5. O'brien JS, Okada S, Chen A, et al: Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay. New England J Med 1970; 283: 15-20
6. Japanese source
7. Frey LC, Ringel SP, Filley CM, et al: The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. Arch Neurol 2005; 62: 989-994
8. Streifler JY, Gornish M, Hadar H, et al: Brain imaging in late-onset GM2 gangliosidosis. Neurology 1993; 43: 2055-2058
9. Streifler JY, Hadar H, Gadoth N: Muscle computed tomography features of motor neuron disease in late-onset GM2 gangliosidosis. J Neuroimaging 1995; 5: 4-8