Various molecular cell biology and molecular genetic approaches have indicated significant
roles for kinesin superfamily proteins (KIFs) in intracellular transport and have shown that …

In contrast to most eukaryotic cells, neurons possess long, highly branched processes called
axons and dendrites. In large mammals, such as humans, some axons reach lengths of over …

Dystonia is a brain disorder characterized by sustained involuntary muscle contractions. It is
typically inherited as an autosomal dominant trait with incomplete penetrance. While lacking …

Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a
dominantly inherited form of spasmodic dysphonia combined with other focal or generalized …

Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1–4, 5a, b, 6–8,
10–13 and 15–18 (loci DYT 1–4, 5a, b, 6–8, 10–13, 15–18) have been recognized. Twelve …

A specific mutation (ΔE) in torsinA underlies most cases of the dominantly inherited
movement disorder, early-onset torsion dystonia (DYT1). TorsinA, a member of the AAA+ …

DYT1 dystonia is a severe form of young‐onset dystonia caused by a mutation in the gene
that encodes for the protein torsinA, which is thought to play a role in protein transport and …

The loss of a glutamic acid residue in the AAA-ATPase (ATPases associated with diverse
cellular activities) torsinA is responsible for most cases of early onset autosomal dominant …

Myoclonus-dystonia syndrome (MDS) is a genetically heterogeneous disorder characterized
by myoclonic jerks often seen in combination with dystonia and psychiatric co-morbidities …

Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only
clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an …