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Case ReportOpen Access
Episodic Ataxia Type 2 : An Uncommon Inherited CNS Channelopathies
The author reports the first Thai patient with a rare inherited ataxic disorder characterized by
intermittent episodes of ataxia, headache and vertigo. The patient was well between attacks despite
persistent nystagmus on examination. Magnetic resonance imaging of the brain revealed cerebellar
atrophy. All symptoms were ameliorated by acetazolamide therapy. This clinical syndrome was previously
described as acetazolamide-responsive episodic ataxia which was subsequently shown to be
associated with mutations in a α1A-subunit of P/Q type voltage-gated calcium channel gene, known as
'episodic ataxia type 2'. Clinical and molecular aspects of episodic ataxia type 2 were also reviewed.
Key word : Episodic Ataxia, Channelopathies, Cerebellar Degeneration
intermittent episodes of ataxia, headache and vertigo. The patient was well between attacks despite
persistent nystagmus on examination. Magnetic resonance imaging of the brain revealed cerebellar
atrophy. All symptoms were ameliorated by acetazolamide therapy. This clinical syndrome was previously
described as acetazolamide-responsive episodic ataxia which was subsequently shown to be
associated with mutations in a α1A-subunit of P/Q type voltage-gated calcium channel gene, known as
'episodic ataxia type 2'. Clinical and molecular aspects of episodic ataxia type 2 were also reviewed.
Key word : Episodic Ataxia, Channelopathies, Cerebellar Degeneration
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