Recent advances in sequencing technologies and collaborative efforts have led to substantial
progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This …

A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common
cause of late-onset ataxia. In the general population, four different repeat conformations are …

Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental psychiatric
disorder. Genome-wide association studies (GWAS) have identified several loci associated …

Objective After the initial report of a CHCHD10 mutation in mitochondrial disease with
features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been …

Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant
inheritance and a life expectancy of 2–5 years; however, a quite common occurrence of …

Restless legs syndrome (RLS) is a common neurological condition, with a prevalence of 5–15%
in Central Europe and North America. Although genome-wide association studies (…

Background Although the typical inheritance of spastic paraplegia 7 is recessive, several
reports have suggested that SPG7 variants may also cause autosomal dominant hereditary …

Tourette’s Syndrome (TS) is a neurodevelopmental disorder that is characterized by motor
and phonic tics. A recent TS genome-wide association study (GWAS) identified a genome-…

Currently, there have been several genes implicated in essential tremor, such as FUS, STK32B
and TENM4 (Merner et al., 2012; Hor et al., 2015; Müller et al., 2016; Liao et al., 2019). …

Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia
worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past …