Technological advancements have facilitated the availability of reliable and thorough
genetic analysis in many medical fields, including neurology. In this review, we focus on the …

Currently, pathogenic variants in more than 500 different genes are known to cause various
movement disorders. The increasing accessibility and reducing cost of genetic testing has …

Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes
encoding for different isotypes of α-and β-tubulins, the structural components of …

Sleep disturbances are common in various neurological pathologies, including amyotrophic
lateral sclerosis (ALS), multiple system atrophy (MSA), hereditary ataxias, Huntington's …

Abstract Objective In Norway, 89% of patients with Amyotrophic lateral sclerosis (ALS) lacks
a genetic diagnose. ALS genes and genes that cause other neuromuscular or …

We screened 62 late-onset ataxia patients for the AAGGG pathological expansion in the
RFC-1 gene that, when biallelic, causes Cerebellar Ataxia, Neuropathy, Vestibular Areflexia …

Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological
disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes …

Background Autosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat
expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia …

Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of
neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts …

Abstract Background Gerstmann Sträussler Scheinker (GSS) is an inherited, invariably fatal
prion disease. Like other human prion diseases, GSS is caused by missense mutations in …