RT Journal Article
SR Electronic
T1 New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 968
OP 972
DO 10.1136/jnnp.2009.177089
VO 81
IS 9
A1 Delnooz, C C S
A1 Lefeber, D J
A1 Langemeijer, S M C
A1 Hoffjan, S
A1 Dekomien, G
A1 Zwarts, M J
A1 Van Engelen, B G M
A1 Wevers, R A
A1 Schelhaas, H J
A1 van de Warrenburg, B P C
YR 2010
UL http://jnnp.bmj.com/content/81/9/968.abstract
AB Sandhoff disease is a lipid-storage disorder caused by a defect in ganglioside metabolism. It is caused by a lack of functional N-acetyl-β-d-glucosaminidase A and B due to mutations in the HEXB gene. Typical, early-onset Sandhoff disease presents before 9 months of age with progressive psychomotor retardation and early death. A late-onset form of Sandhoff disease is rare, and its symptoms are heterogeneous. As drug trials that aim to intervene in the disease mechanism are emerging, the recognition and identification of Sandhoff disease patients—particularly those with atypical phenotypes—are becoming more important. The authors describe six new late-onset Sandhoff cases demonstrating cerebellar ataxia or lower motor neuron (LMN) involvement combined with, mostly subclinical, neuropathy. Two different mutations were found: IVS 12–26 G/A and c.1514G→A. In patients with either progressive cerebellar ataxia or LMN disease in the setting of a possibly recessive disorder, Sandhoff disease should be suspected, even when the onset age is over 45 years.