This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Sharon Parnes, MD; George Karpati, MD; Stirling Carpenter, MD; N. M. K. Ng Ying Kin, PhD; Leonhard S. Wolfe, MD, PhD; Leslie Suranyi, MD

Arch Neurol. 1985;42(12):1176-1180.

Abstract
• Three patients from two families had an unusual phenotypical variant of late-onset hexosaminidase-A deficiency. The clinical picture was dominated by spinal motor neuron involvement mimicking juvenile-onset spinal muscular atrophy. Atypical features included prominent muscle cramps, postural and action tremor, recurrent psychosis, incoordination, corticospinal and corticobulbar involvement, and dysarthria. The presence of these atypical features in patients whose lower motor neuron involvement would otherwise be consistent with juvenileonset spinal muscular atrophy should raise the suspicion of the presence of hexosaminidase-A deficiency and GM₂ gangliosidosis that can be proved by appropriate enzyme assays.

Author Affiliations
From the Department of Neurology and Neurosurgery, McGill University, Montreal, and the Montreal Neurological Institute (Drs Parnes, Karpati, Carpenter, Kin, and Wolfe); Dr Suranyi is in private in Cornwall, Ontario, Canada.

Footnotes
Accepted for publication July 12, 1984.

Reprint requests to Montreal Neurological Institute, 3801 University St, Montreal, Quebec, Canada H3A 2B4 (Dr Karpati).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported
Maegawa et al.
Pediatrics 2006;118:e1550-e1562.
ABSTRACT | FULL TEXT  

The Natural History of Cognitive Dysfunction in Late-Onset GM2 Gangliosidosis
Frey et al.
Arch Neurol 2005;62:989-994.
ABSTRACT | FULL TEXT  

Neuropsychiatric Aspects of the Adult Variant of Tay-Sachs Disease
MacQueen et al.
J. Neuropsychiatry Clin. Neurosi. 1998;10:10-19.
ABSTRACT | FULL TEXT  

Review Article: The Inherited Neurodegenerative Disorders of Childhood: Clinical Assessment
Percy
J Child Neurol 1987;2:82-97.
ABSTRACT