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GENATLAS PHENOTYPE

last update : 18-09-2012

Symbol	DYT9
Location	1p34.2
HGNC id	2430
Name	dystonia 9, choreoathetosis/spasticity, episodic
Other name(s)	choreoathetosis, paroxysmal, with episodic ataxia
Corresponding gene	SLC2A1
Other symbol(s)	CSE
Main clinical features	paroxysmal choreoathetosis with episodic ataxia and spasticity, involuntary movements, dystonic posture of toes, legs andarms, imbalance, dysarthria, paresthesias periorally without myokymia, episodes can be induced by alcohol, fatigue, and emotional stress attacks of dystonia, chorea and athetosis, lasting from minutes to hours, which may occur either spontaneously at rest or following provoking factors, such as alcohol or caffeine assumption, emotional stress and fatigue (Ghezzi 2009)
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

MTS (mitochondrial targeting sequence), which contains all three PNKD mutations, is then cleaved off the mature proteins before their insertion in the inner mitochondrial membrane (Ghezzi 2009)