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

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 9, 2010, Pages 968-972

  Delnooz, C C S ^a   Lefeber, D J ^b   Langemeijer, S M C ^a   Hoffjan, S ^c   Dekomien, G ^c   Zwarts, M J ^a   Van Engelen, B G M ^a   Wevers, R A ^b   Schelhaas, H J ^a   Van De Warrenburg, Bart P C ^a  

^a RADBOUD UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYL BETA GLUCOSAMINIDASE; N ACETYL BETA GLUCOSAMINIDASE A; N ACETYL BETA GLUCOSAMINIDASE B; UNCLASSIFIED DRUG; ACETYLGLUCOSAMINIDASE; BETA N ACETYLHEXOSAMINIDASE BETA CHAIN; HEXB PROTEIN, HUMAN;

ADULT; ADULT ONSET SANDHOFF DISEASE; ARM WEAKNESS; ARTICLE; AUTONOMIC DYSFUNCTION; BIOCHEMISTRY; CEREBELLAR ATAXIA; CLIMBING; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; DYSARTHRIA; ELECTROMYOGRAPHY; FASCICULATION; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LOWER MOTONEURON DISEASE; MALE; MISSENSE MUTATION; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE CRAMP; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NOCICEPTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SANDHOFF DISEASE; SENSORY DYSFUNCTION; SLURRED SPEECH; SUPINE POSITION; TENDON REFLEX; WALKING DIFFICULTY; BLOOD; CASE REPORT; GENETICS; MIDDLE AGED; MUTATION;

ACETYLGLUCOSAMINIDASE; ADULT; AGE OF ONSET; BETA-HEXOSAMINIDASE BETA CHAIN; CEREBELLAR ATAXIA; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PHENOTYPE; SANDHOFF DISEASE;

EID: 77956644357     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.177089     Document Type: Article

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