Hereditary Paroxysmal Ataxia Research Articles

Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family

Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium channel, there are few reports of genetically confirmed EA-2 in Korea. In 1998, a Korean family with acetazolamide-responsive hereditary paroxysmal ataxia was reported, but the genetic background was not defined at that time. In the present study we performed direct sequencing of the entire exons and their flanking intronic sequences of the CACNA1A gene and found a deletion mutation (c.2042_2043delAG).

Three novel KCNA1 mutations in episodic ataxia type I families.

Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.

EEG findings in acetazolamide-responsive hereditary paroxysmal ataxia

EEG studies were performed in six family members affected by acetazolamide-responsive paroxysmal ataxia. Intermittent rhythmic delta activity was found at rest in five of them; low amplitude spikes were associated with delta waves in two cases, resulting in irregular spike and wave patterns. Slowing of background activity was present in three patients. EEG abnormalities were activated by hyperventilation and modified neither by intermittent photic stimulation, nor by acetazolamide therapy. Our results suggest that EEG may be helpful to recognize this rare, but well defined, treatable disorder.

D-Lactic acidosis and selected cerebellar ataxias.

D-Lactic acidosis and selected cerebellar ataxias.