Novel homozygous SYNE1 missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report
Therapeutic Advances in Neurological Disorders
Published online on March 27, 2026
Abstract
Therapeutic Advances in Neurological Disorders, Volume 19, January-December 2026.
SYNE1 ataxia is a rare representative of autosomal recessive hereditary cerebellar ataxias (ARCAs). It was originally described in the Beauce region of Quebec as a pure cerebellar form of ataxia. Later, more complex phenotypes with a wide range of extra-...
SYNE1 ataxia is a rare representative of autosomal recessive hereditary cerebellar ataxias (ARCAs). It was originally described in the Beauce region of Quebec as a pure cerebellar form of ataxia. Later, more complex phenotypes with a wide range of extra-...