title: [A sporadic case of episodic ataxia with nystagmus (EA-2)].
abstract: A 39-year-old man with episodic ataxia with nystagmus (EA-2) was reported. He showed intermittent cerebellar dysfunction, i.e., ataxia, nystagmus, dysarthria and vertigo, since he was 10 years old. Although this attack lasted for several hours, he was normal with exception of interictal nystagmus. His parents and sister showed no episodic ataxia. We ruled out the diseases, which may cause episodic ataxia, such as multiple sclerosis, vascular disorders, metabolic disorders and congenital anomalies. He was released from the attack by treatment with acetazolamide. EA-2 has been associated with mutations in the alpha 1A-voltage dependent calcium channel gene (CACNL1A4), which is also affected in familial hemiplegic migraine (FMH) and spinocerebellar ataxia type 6 (SCA6). In EA-2, frame-shift mutation leading to premature stop and splice-site mutation leading to truncated, non-functional channel protein have been reported. However, our patient did not have the mutations in the CACNL1A4 gene that were previously reported. In addition, our patient did not have an expanded CAG allele in the CACNL1A4 gene which is responsible for SCA6. Further examination is required to address whether a new mutation exists in the CACNL1A4 gene in our patient.
authors.affiliation: Department of Neurology, Jichi Medical School.
authors.forename: M
authors.initials: M
authors.lastname: Namekawa
authors.forename: Y
authors.initials: Y
authors.lastname: Takiyama
authors.forename: N
authors.initials: N
authors.lastname: Ueno
authors.forename: M
authors.initials: M
authors.lastname: Nishizawa
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D015220:Calcium Channels / Q000235:genetics; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000150:complications*; D010507:Periodicity; D020864:Calcium Channels, N-Type
chemical_list: D000086:Acetazolamide; D000927:Anticonvulsants; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type