Late onset hereditary episodic ataxia

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 5, 2009, Pages 566-568

  Damak, M ^a   Riant, F ^a,b   Boukobza, M ^a   Tournier Lasserve, E ^a,b   Bousser, M G ^a,b   Vahedi, K ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ACETYLSALICYLIC ACID; EXCITATORY AMINO ACID TRANSPORTER 1; NUCLEIC ACID BINDING PROTEIN; POTASSIUM CHANNEL KV1.1; SCA6 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; VOLTAGE GATED CALCIUM CHANNEL; CACNB4 PROTEIN, HUMAN; CALCIUM CHANNEL; CARBONATE DEHYDRATASE INHIBITOR;

ADULT; AGED; ARTICLE; BRAIN SIZE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE DURATION; DISEASE SEVERITY; EXON; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; LATE ONSET EPISODIC ATAXIA; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TREATMENT RESPONSE; VOLUMETRY; ATAXIA; BRAIN; CASE REPORT; GENETICS; MIDDLE AGED; PATHOLOGY; PEDIGREE;

ACETAZOLAMIDE; AGE OF ONSET; ATAXIA; BRAIN; CALCIUM CHANNELS; CARBONIC ANHYDRASE INHIBITORS; EXONS; FEMALE; GAIT ATAXIA; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE;

EID: 65449128905     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.150615     Document Type: Article

References (14)

1. Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996;87:543-52. (Pubitemid 26374327)
2. Denier C, Ducros A, Vahedi K, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999;52:1816-21. (Pubitemid 29260894)
3. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004;62:17-22. (Pubitemid 38082863)
4. Lee H, Wang H, Jen JC, et al. A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat 2004;24:536.
5. Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8:136-40. (Pubitemid 24308360)
6. Steckley JL, Ebers GC, Cader MZ, et al. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 2001;57:1499-502. (Pubitemid 32995739)
7. Escayg A, De Waard M, Lee DD, et al. Coding and non-coding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000;66:1531-9. (Pubitemid 30463072)
8. Jen JC, Wan J, Palos TP, et al. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005;65:529-34. (Pubitemid 41170710)
9. Damji KF, Allingham RR, Pollock SC, et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 1996;53:338-44. (Pubitemid 26110089)
10. Cha Y, Lee H, Jen JC, et al. Episodic vertical oscillopsia with progressive gait ataxia: Clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. J Neurol Neurosurg Psychiatry 2007;78:1273-5. (Pubitemid 350057298)
11. Kerber KA, Jen JC, Lee H, et al. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol 2007;64:749-52. (Pubitemid 46789844)
12. Imbrici P, Eunson LH, Graves TD, et al. Late onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology 2005;65:944-6. (Pubitemid 41362150)
13. Richter S, Dimitrova A, Maschke M, et al. Degree of cerebellar ataxia correlates with three dimentional MRI-based cerebellar volume in pure cerebellar degeneration. Eur Neurol 2005;54:23-7. (Pubitemid 41328730)
14. Julien J, Denier C, Ferrer X, et al. Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients. A new disease? J Neurol 2003;250:230-1.