Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …

Importance Molecular diagnosis is difficult to achieve in disease groups with a highly
heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients …

Ataxia‐telangiectasia is an autosomal recessive neurodegenerative disorder that was
initially thought to present exclusively in childhood. With the discovery of the ATM gene, the …

AT is a prototype genome instability syndrome and a multifaceted disease. AT leads to
neurodegeneration− primarily cerebellar atrophy, immunodeficiency, oculocutaneous …

Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous
group of rare, mostly neurodegenerative genetic disorders which usually start in childhood …

There are many rare movement disorders, and new ones are described every year. Because
they are not well recognized, they often go undiagnosed for long periods of time. However …

Ataxia‐telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized
by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive …

Objective Variant ataxia‐telangiectasia is caused by mutations that allow some retained
ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features …

The dystonias are a group of disorders characterized by excessive muscle contractions
leading to abnormal movements and postures. There are many different clinical …