New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. Issue 9 (26th August 2010)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 81:Issue 9(2010)
• Page Start: 968
• Page End: 972
• Publication Date: 2010-08-26
• Subjects: Motor neuron disease (MND) -- spinal muscular atrophy (SMA) -- sandhoff disease -- cerebellar ataxia -- ganglioside; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2009.177089
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : 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.