Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Abstract

Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of G,M-gangliosidosis, variant 0) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.

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

“…Overall, the main clinical features of adult-onset Sandhoff disease consist of a cerebellar syndrome (50% of cases) or LMN disease (42%); the remainder mainly show autonomic dysfunction. Some case reports mention the presence of either neuronopathy or axonopathy, which was mostly clinically mild or only detectable by EMG/NCS 13 14. Adult-onset Tay–Sachs disease can present with similar clinical features, but biochemically there is a deficiency of only HEXA 15 16…”

Late‐onset Tay–Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients

“…Although peripheral nerve involvement is well documented in Sandhoff disease, 7,9,16,17 it is only rarely reported in LOTS. 1,3,5,7,8,13 This may be due to the lack of complete investigations in previously reported cases of LOTS.…”

“…Schnorf et al 17 speculated that, in Sandhoff disease, excessive ganglioside accumulates in neuronal cell bodies. It interferes with axonal transport of nutrients and trophic factors to the distal nerve endings, resulting in a distal dying-back axonal neuropathy.…”

“…Although peripheral nerve involvement has been well documented in Sandhoff disease, 3,7,9,10,16,17 especially autonomic dysfunction, it has only rarely been reported in LOTS. 1,5,7,8,13 We investigated the prevalence of peripheral neuropathy in a cohort of 30 patients with LOTS at two institutions.…”

Variante juvenil de la enfermedad de Sandhoff: presentación del primer caso descrito en Argentina

“…La supervivencia en estos pacientes puede alcanzar la sexta o séptima década de vida. 1,5 La ES es una patología poco frecuente en la población en general, con una incidencia estimada de 1 enfermo cada 422 000 individuos. 4 Sin embargo, esta enfermedad fue reconocida con alta incidencia en diferentes grupos étnicos, y se destaca la casuística de la comunidad criolla del Valle de Traslasierra de Córdoba y los llanos de La Rioja, Argentina.…”