Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in
white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) …

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …

Autophagy is required for the homeostasis of cellular material and is proposed to be
involved in many aspects of health. Defects in the autophagy pathway have been observed …

Objective To identify novel causes of recessive ataxias, including spinocerebellar ataxia with
saccadic intrusions, spastic ataxias, and spastic paraplegia. Methods In an international …

Abstract Purpose of Review: This article introduces the background and common etiologies
of ataxia and provides a general approach to assessing and managing the patient with …

Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in
dozens of Mendelian diseases. Most existing tools for detecting STR variation with short …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian
nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of …