Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation

Movement Disorders

Volumn 18, Issue 10, 2003, Pages 1198-1200

  Sekijima, Yoshiki ^a   Hashimoto, Takao ^a   Onodera, Osam ^b   Date, Hidetoshi ^b   Okano, Tomomi ^a   Naito, Kosuke ^a   Tsuji, Shoji ^b   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

Author keywords

Aprataxin; Ataxia; Cerebellar atrophy; Dystonia; Polyneuropathy

Indexed keywords

ADENINE; APRATAXIN; CARBAMAZEPINE; CARBIDOPA; CLONAZEPAM; CYTOSINE; GUANINE; LEVODOPA; PROTIRELIN DERIVATIVE; PROTIRELIN TARTRATE; TALTIRELIN; TRIHEXYPHENIDYL; TYROSINE; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADOLESCENT; APRAXIA; AREFLEXIA; ARTICLE; ATAXIA; BASAL GANGLION; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DNA DETERMINATION; DYSTONIA; EYE MOVEMENT DISORDER; FEMALE; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THALAMUS; TREATMENT FAILURE; TRINUCLEOTIDE REPEAT;

ADOLESCENT; APRAXIAS; BRAIN MAPPING; CEREBELLUM; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DYSTONIA; FEMALE; HUMANS; HYPOALBUMINEMIA; MAGNETIC RESONANCE IMAGING; MUTATION; NUCLEAR PROTEINS; OCULAR MOTILITY DISORDERS; POLYMERASE CHAIN REACTION; THREONINE;

EID: 0242288090     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10526     Document Type: Article

References (10)

1. Uekawa K, Yuasa T, Kawasaki S, Makibuchi T, Ideta, T. A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia: a variant form of Friedreich's disease or a new clinical entity? Clin Neurol 1992;32:1067-1074.
2. Fukuhara N, Nakajima T, Sakajiri K, Matsubara N, Fujita M. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease. J Neurol Sci 1995;133: 140-151.
3. Sekijima Y, Ohara S, Nakagawa S, et al. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family. J Neurol Sci 1998;158:30-37.
4. Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. Eur Neurol 2000;43:82-87.
5. Date H, Onodera O, Tanaka H, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001;29:184-188.
6. Moreira M-C, Barbot C, Tachi N, et al. The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001;29:189-193.
7. Shimazaki H, Takiyama Y, Sakoe K, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002;59:590-595.
8. Aicardi J, Barbosa C, Andermann E, et al. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol 1988;24:497-502.
9. Barbot C, Coutinho P, Chorao R, et al. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol 2001;58:201-205.
10. Marsden CD, Obeso JA, Zarranz JJ, Lang AE. The anatomical basis of symptomatic dystonia. Brain 1985;108:463-483.