Recent consensus on the definition, phenomenology and classification of dystonia centres
around phenomenology and guides our diagnostic approach for the heterogeneous group …

The genetic combined dystonias are a clinically and genetically heterogeneous group of
neurologic disorders defined by the overlap of dystonia and other movement disorders such …

An understanding of the genetic etiology of Parkinson disease (PD) has become imperative
for the modern-day neurologist. Although genetic forms cause only a minority of PD, the …

Beta-propeller protein-associated neurodegeneration is a subtype of monogenic
neurodegeneration with brain iron accumulation caused by de novo mutations in WDR45 …

X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men
whose mothers originate from the island of Panay, Philippines. Current evidence indicates …

X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly
prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic …

The TATA box-binding protein-associated factor 1 (TAF1) is a ubiquitously expressed
protein and the largest subunit of the basal transcription factor TFIID, which plays a key role …

Background X‐linked dystonia‐parkinsonism is a rare neurological disease endemic to the
Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress …

ABSTRACT X-linked dystonia-parkinsonism (XDP) is a hereditary neurodegenerative
disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms …

X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement
disorder that only affects Filipino descent, predominantly males. Its underlying cause is …