A new variant of sensory ataxic neuropathy with autosomal dominant inheritance

Brain : a Journal of Neurology
G W van DijkH Veldman

Abstract

We describe a Dutch family with sensory ataxia in two generations, late onset of symptoms (over the age of 40 years) and slow progression. Clinical, electrophysiological and sural nerve biopsy findings revealed a sensory polyneuropathy due to axonal degeneration of myelinated nerve fibres in four of five investigated siblings. Other neurological abnormalities in the affected family members consisted only of mild eye movement disturbances, probably due to cerebellar involvement. Five other family members were investigated and found unaffected. As the disease is inherited from the affected father to his sons and daughters, this is the first description of a probably autosomal dominant form of late onset hereditary sensory neuropathy with predominant sensory ataxia and minor other neurological abnormalities.

Citations

Apr 1, 1997·Journal of Neurology·J H Wokke, G W van Dijk
May 7, 2002·American Journal of Medical Genetics·Zoran BrkanacWendy H Raskind
Oct 21, 2017·Brain : a Journal of Neurology·Esther A R NibbelingDineke S Verbeek
May 31, 2018·Current Opinion in Neurology·Livia ParodiAlexandra Durr
Feb 23, 2020·International Journal of Molecular Sciences·Michie ImamuraShunya Nakane
Mar 5, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Francesca RosiniAlessandra Rufa
Aug 9, 2020·Frontiers in Neuroscience·Katherine J RobinsonAngela S Laird
Jun 25, 2019·Frontiers in Cell and Developmental Biology·Rajan ThakurPadinjat Raghu

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