Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree

Journal of the Neurological Sciences

Volumn 263, Issue 1-2, 2007, Pages 124-132

  Ichiba, Mio ^a   Nakamura, Masayuki ^a   Kusumoto, Akira ^a   Mizuno, Emiko ^a   Kurano, Yutaka ^a   Matsuda, Mieko ^a   Kato, Maiko ^a   Agemura, Asumi ^a   Tomemori, Yuko ^a   Muroya, Shinji ^a   Nakabeppu, Yoshiaki ^a   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Chorea acanthocytosis; Frontosubcortical dementia; Heterozygous mutation carriers; Neurodegeneration; Signs or symptoms potentially attributable to a heterozygous VPS13A mutation; VPS13A gene (ChAc)

Indexed keywords

ACANTHOCYTOSIS; ADULT; AGED; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; BRAIN BLOOD FLOW; BRAIN DYSFUNCTION; CEREBROVASCULAR ACCIDENT; CHOREA ACANTHOCYTOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DISEASE COURSE; FEMALE; FOLLOW UP; FRONTAL LOBE; GENE; GENE FUNCTION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NEURORADIOLOGY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; VPS 13A GENE;

ADULT; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; EVALUATION STUDIES AS TOPIC; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEUROACANTHOCYTOSIS; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; VESICULAR TRANSPORT PROTEINS;

EID: 35648981928     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.07.011     Document Type: Article

References (35)

1. Danek A., Jung H.H., Melone M.A., Rampoldi L., Broccoli V., and Walker R.H. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci 229-230 (2005) 171-186
2. Ueno S., Kamae K., Yamashita Y., Maruki Y., Tomemori Y., Nakamura M., et al. Chorea-acanthocytosis with the ehime-deletion mutation. In: Danek A. (Ed). Neuroacanthocytosis Syndromes (2005), Springer, Dordrecht, Netherlands 39-43
3. Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28 2 (2001) 121-122
4. Rampoldi L., Dobson-Stone C., Rubio J.P., Danek A., Chalmers R.M., Wood N.W., et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28 2 (2001) 119-120
5. Dobson-Stone C., Danek A., Rampoldi L., Hardie R.J., Chalmers R.M., Wood N.W., et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10 11 (2002) 773-781
6. Shizuka M., Watanabe M., Aoki M., Ikeda Y., Mizushima K., Okamoto K., et al. Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis. J Neurol Sci 150 2 (1997) 133-135
7. Hanaoka N., Yoshida K., Nakamura A., Furihata K., Seo T., Tani Y., et al. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. J Neurol Sci 165 1 (1999) 6-9
8. Ueyama H., Kumamoto T., Nagao S., Masuda T., Sugihara R., Fujimoto S., et al. A novel mutation of the McLeod syndrome gene in a Japanese family. J Neurol Sci 176 2 (2000) 151-154
9. Holmes S.E., O'Hearn E., Rosenblatt A., Callahan C., Hwang H.S., Ingersoll-Ashworth R.G., et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 29 4 (2001) 377-378
10. Koide R., Kobayashi S., Shimohata T., Ikeuchi T., Maruyama M., Saito M., et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Hum Mol Genet 8 11 (1999) 2047-2053
11. Andrew S.E., Goldberg Y.P., Theilmann J., Zeisler J., and Hayden M.R. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3 1 (1994) 65-67
12. International Statistical Classification of Diseases and Related Health Problems Tenth Revision (1992), World Health Organization
13. Cummings J.L., Mega M., Gray K., Rosenberg-Thompson S., Carusi D.A., and Gornbein J. The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia. Neurology 44 12 (1994) 2308-2314
14. Hamilton M. A rating scale for depression. J Neurol Neurosurg Psychiatry 23 (1960) 56-62
15. Goodman W.K., Price L.H., Rasmussen S.A., Mazure C., Fleischmann R.L., Hill C.L., et al. The Yale-Brown Obsessive Compulsive Scale. I. Development, use, and reliability. Arch Gen Psychiatry 46 11 (1989) 1006-1011
16. Unified Huntington's Disease Rating Scale: reliability and consistency. Huntington Study Group. Mov Disord 11 2 (1996) 136-142
17. Abnormal Involuntary Movement Scale (AIMS). Psychopharmacol Bull 24 4 (1988) 781-783
18. Folstein M.F., Folstein S.E., and McHugh P.R. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12 3 (1975) 189-198
19. Wechsler D. WAIS-R. Manual (1981), Psychological Corporation, New York
20. Raven J., Court J., and Raven J. Manual for Raven's Progressive Matrices and Vocabulary Scales (1986), Lewis, London: H.K.
21. Storch A., Kornhass M., and Schwarz J. Testing for acanthocytosis: a prospective reader-blinded study in movement disorder patients. J Neurol 252 1 (2005) 84-90
22. Minoshima S., Koeppe R.A., Frey K.A., and Kuhl D.E. Anatomic standardization: linear scaling and nonlinear warping of functional brain images. J Nucl Med 35 9 (1994) 1528-1537
23. Minoshima S., Frey K.A., Koeppe R.A., Foster N.L., and Kuhl D.E. A diagnostic approach in Alzheimer's disease using three-dimensional stereotactic surface projections of fluorine-18-FDG PET. J Nucl Med 36 7 (1995) 1238-1248
24. Kase C.S., Maulsby G.O., deJuan E., and Mohr J.P. Hemichorea-hemiballism and lacunar infarction in the basal ganglia. Neurology 31 4 (1981) 452-455
25. Meenakshi-Sundaram S., Arun Kumar M.J., Sridhar R., Rani U., and Sundar B. Neuroacanthocytosis misdiagnosed as Huntington's disease: a case report. J Neurol Sci 219 1-2 (2004) 163-166
26. Montoya A., Price B.H., Menear M., and Lepage M. Brain imaging and cognitive dysfunctions in Huntington's disease. J Psychiatry Neurosci 31 1 (2006) 21-29
27. Henkel K., Danek A., Grafman J., Butman J., and Kassubek J. Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. Mov Disord (2006)
28. Arzberger T., Heinsen H., Buresch N., Dobson-Stone C., Danek A., and Kretzschmar H. The neuropathology of chorea-acanthocytosis: from stereology to an immunohistochemical detection of chorein. Mov Disord 20 12 (2005) 1679
29. Miller B.L., Darby A.L., Swartz J.R., Yener G.G., and Mena I. Dietary changes, compulsions and sexual behavior in frontotemporal degeneration. Dementia 6 4 (1995) 195-199
30. Hozumi I., Nishizawa M., Ariga T., Inoue Y., Ohnishi Y., Yokoyama A., et al. Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease. J Neurol Sci 90 3 (1989) 273-280
31. Endres W. Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis 20 1 (1997) 9-20
32. Ishihara H., Kanda F., Nishio H., Sumino K., and Chihara K. Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy. J Neurol 248 10 (2001) 856-860
33. Thomson W.H., Sweetin J.C., and Hilditch T.E. Studies on the carrier state in X-linked recessive (Duchenne) muscular dystrophy. Clin Chim Acta 63 3 (1975) 383-394
34. Scharf J.M., Endrizzi M.G., Wetter A., Huang S., Thompson T.G., Zerres K., et al. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 20 1 (1998) 83-86
35. Giess R., Holtmann B., Braga M., Grimm T., Muller-Myhsok B., Toyka K.V., et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet 70 5 (2002) 1277-1286