A very rare, with a progressive complex and variable clinical course due to aging and the presence of heterogeneous mutations which are responsible for different degrees of enzyme deficiency.
Published in Chapter:
Neuropsychiatry in Late Onset Tay-Sachs Disease: Key Features and Possible Etiology of Psychosis
Natan Gadoth (Department of Neurology, Maynei Hayeshua Medical Center, Bnei Barak and the Sackler Faculty of Medicine, Tel Aviv University, Israel)
Copyright: © 2020
|Pages: 18
DOI: 10.4018/978-1-7998-2088-8.ch009
Abstract
The neuropsychiatric adult onset Tay-Sachs disease is relatively unknown. Although clinical features and mode of presentation are variable, there are common symptoms and signs of, for example, spinocerebellar atrophy, motor neuron disease, psychiatric disorder, and neuroimaging features of cerebellar atrophy. This chapter reviews the neuropsychiatric features of Late Onset Tay-Sachs disease, discussing possible interconnections between psychosis and the cerebellum in this disease. Understanding this interlink offers some important insights into the rarity of the disease that together with the diverse clinical onset and manifestations are responsible for a marked delay in diagnosis and even misdiagnosis. Genetic testing for the activity of Hexosaminidase A, prompted by the presence of cerebellar atrophy will establish the diagnosis. In all, the combination of cerebellar degeneration together with atypical psychiatric features is in line with the ongoing assumption that the cerebellum and its thalamo-cortical outflow are responsible for psychosis, and in particular, schizophrenia.