Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia
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چکیده
منابع مشابه
Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia
DYT1 dystonia, an early onset generalized dystonia, also known as Oppenheim’s dystonia, is an inherited isolated dystonia characterized by progressive generalized muscle spasms and sustained postures leading to significant disability [1]. The disease is inherited in an autosomal dominant manner with incomplete penetrance (30–40 %) and typically presents in childhood [2]. Patients harbor a 3-bp ...
متن کاملTorsinA and DYT1 dystonia: a synaptopathy?
DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein TA (torsinA). TA is a member of the AAA+ (ATPase associated with various cellular activities) family of chaperones with m...
متن کاملDeep brain stimulation of globuspallidusinternus for DYT1 positive primary generalized dystonia
Background : Deep brain stimulation (DBS) of the globuspallidusinternus (GPi) is recommended as a promising technique for the management of the primary generalized dystonia (PGD) with DYT1 gene mutation. We present the first report of DBS results in Iranian patients with DYT1 positive PGD. Methods : Nine patients who suffered from severely disabling DYT1 positive PGD consecutively were recr...
متن کاملAberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.
Torsion dystonia-1 (DYT1) dystonia, the most common inherited form of dystonia, is caused by a three base pair deletion that eliminates a single amino acid from the disease protein, torsinA. TorsinA is an "AAA" protein thought to reside in the endoplasmic reticulum (ER), yet both its cellular function and the basis for neuronal dysfunction in DYT1 remain unknown. A clue to disease pathogenesis ...
متن کاملRelative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.
A three base-pair deletion in the widely expressed TOR1A gene causes the childhood onset, neurological disease of DYT1 dystonia. Mouse Tor1a gene knockout also specifically affects the developing nervous system. However, in both cases, the basis of neuronal tissue specificity is unknown. TorsinA is one of four predicted mammalian torsin ATPases associated with assorted cellular activities (AAA+...
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ژورنال
عنوان ژورنال: Acta Neuropathologica Communications
سال: 2016
ISSN: 2051-5960
DOI: 10.1186/s40478-016-0362-z