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Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
A small number of variant later-onset forms of Sandhoff disease have been observed. They have variously been referred to as juvenile, subacute or adult-chronic, but now that there are molecular distinctions, it is likely that there will be a spectrum of phenotype. The majority of these variants present between two and ten years of age, most often with ataxia, speech abnormalities, or incoordination [10–15]. There may be choreoathetosis or dystonia. Neurodegeneration is progressive, and seizures and spasticity develop. There may or may not be cherry red spots or, more commonly, retinitis pigmentosa and optic atrophy. By 10–15 years, the patient is blind and decerebrate, as in the infantile patient, and death shortly ensues. One patient referred to as having a juvenile form of Sandhoff disease [11] developed slurred speech, ataxia and some mental deterioration at five years of age. By ten years, he had spasticity, but the optic fundi were normal.
Sandhoff disease in the elderly: a case study
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
Leidy García Morales, Reinaldo Gaspar Mustelier Bécquer, Laura Pérez Joglar, Tatiana Zaldívar Vaillant
Sandhoff disease is an infrequent genetically-caused disorder with a recessive inheritance pattern. It belongs to the gangliosidosis GM2 group and it is produced by mutations in gen HEXB (chromosome 5q13) leading to reduced activity of enzymes β-hexosaminidase A and B, and deposition of sphingolipids (ganglioside GM2 and globoside) in brain and other organs. Nearly, 40 specific mutations causing this disease have been reported (1). Clinical manifestations and age of onset depend on the enzymatic residual catabolic activity, associated with infantile, juvenile, and adult variants (2). The homozygous state is associated with earlier onset and greater disease severity (1). The clinical manifestations of the adult variant are heterogeneous and poorly characterized. It may appear as a combination of motor neuron disease, spinocerebellar ataxia, neuropathy, autonomic dysfunction, cognitive impairment, movement disorders, and psychiatric manifestations (2–4). At this time, there is no effective treatment for this disease (2).
Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Maria Khoueiry, Elia Malek, Johnny S. Salameh
Sandhoff disease is a rare autosomal-recessive lipid-storage-disorder, first described by Konrad Sandhoff in 1968. This disease is caused by mutations in the HEXB gene on chromosome5q13, and results in the deficient activities of both β-hexosaminidase A and B isozymes (1). The accumulation of the substrates of the two enzymes induces the formation of membranous-cytoplasmic-bodies, leading to an unscheduled-cell-death throughout the central and peripheral-nervous-system (3).