Ataxia with oculomotor apraxia type 2 (AOA 2) is an inherited disorder caused by mutations
within both alleles of the senataxin gene. First symptoms are usually recognized before the …

Ataxia with oculomotor apraxia type 1 (AOA1) is an early onset progressive spinocerebellar
ataxia caused by mutation in aprataxin (APTX). APTX removes 5′-AMP groups from DNA, a …

Hereditary ataxias represent a clinically and genetically heterogeneous group of disorders,
modern classification of which is based on identification of a primary genetic and/or …

We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-
onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), with a Japanese …

2. Discussion In this paper, we report the first case of EA2 with abduction lag during pursuit
eye movements (pursuit abduction lag). To our knowledge, pursuit abduction lag has been …

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare
neurological disorders involving both central and peripheral nervous system, and in some …

Background Hereditary ataxias are a heterogeneous group of neurodegenerative disorders,
where exome sequencing may become an important diagnostic tool to solve clinically or …

ABSTRACT alpha‐Fetoprotein (AFP) is a biomarker of several autosomal recessive
cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor …

D NA single-strand breaks (SSBs) are non-overlapping discontinuities in strands of a DNA
duplex. Significant attention has been given on the DNA SSB repair (SSBR) system in …

Abstract Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive
cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor …