New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

Delnooz, C C S; Lefeber, D J; Langemeijer, S M C; Hoffjan, S; Dekomien, G; Zwarts, M J; Van Engelen, B G M; Wevers, R A; Schelhaas, H J; van de Warrenburg, B P C

Delnooz, C C S; Lefeber, D J; Langemeijer, S M C; Hoffjan, S; Dekomien, G; Zwarts, M J; Van Engelen, B G M; Wevers, R A; Schelhaas, H J; van de Warrenburg, B P C.

Affiliation

Delnooz CC; Radboud University Nijmegen Medical Centre, Department of Neurology (935), Nijmegen 6500 HB, The Netherlands.

J Neurol Neurosurg Psychiatry ; 81(9): 968-72, 2010 Sep.

Article in En | MEDLINE | ID: mdl-20798201

Subject(s)

Cerebellar Ataxia/complications; Motor Neuron Disease/complications; Sandhoff Disease/complications; Sandhoff Disease/diagnosis; Acetylglucosaminidase/blood; Adult; Age of Onset; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Phenotype; Sandhoff Disease/blood; Sandhoff Disease/genetics; beta-Hexosaminidase beta Chain/genetics

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Full text: 1 Database: MEDLINE Main subject: Sandhoff Disease / Cerebellar Ataxia / Motor Neuron Disease Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Year: 2010 Type: Article

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