Background Congenital nonprogressive spinocerebellar ataxia is characterized by early
gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical …

Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to
paralysis and subsequent death in young children. Initially considered a motor neuron …

Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …

Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to
determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a …

Objective To identify disease‐causing variants in autosomal recessive axonal polyneuropathy
with optic atrophy and provide targeted replacement therapy. Methods We performed …

Purpose To examine the impact of a targeted exome approach for the molecular diagnosis of
patients nationwide with a wide range of ataxia-related phenotypes. Methods One hundred …

Background DNA methylation is an essential epigenetic mark, controlled by DNA
methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression …

Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing
and characterizing the progression of myopathies and muscular dystrophies. Whole-body …

Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP
gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal dementia (FTD). …

Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders. …