Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

Neuropathology

Volumn 29, Issue 3, 2009, Pages 285-292

  Shintaku, Masayuki ^a   Kaneda, Daita ^a  

^a OSAKA RED CROSS HOSPITAL   (Japan)

Author keywords

16q linked autosomal dominant cerebellar ataxia; Golgi method; Immunohistochemistry; Neuropathology; Purkinje cell; Ultrastructure

Indexed keywords

AGED; ANAMNESIS; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CELL DEATH; CELL STRUCTURE; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 16Q; DENDRITIC CELL; DISEASE COURSE; GENE MUTATION; GENETIC ANALYSIS; GOLGI COMPLEX; HEARING IMPAIRMENT; HISTOPATHOLOGY; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPERPLASIA; IMMUNOREACTIVITY; MALE; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEURORADIOLOGY; PERIKARYON; PRIORITY JOURNAL; PURKINJE CELL; SPEECH DISORDER; UNSTEADINESS; WHITE MATTER;

AGED; CELL COUNT; CELL NUCLEUS SHAPE; CEREBELLAR ATAXIA; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; MALE; PURKINJE CELLS; UBIQUITIN;

EID: 65649103008     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2008.00947.x     Document Type: Article

References (16)

1. Owada K, Ishikawa K, Toru S et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005 65 : 629 632. (Pubitemid 41170732)
2. Ishikawa K, Mizusawa H. On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. Neuropathology 2006 26 : 352 360. (Pubitemid 44086840)
3. Kelemen J, Yamada M. A modified impregnation method for staining apical dendrite and spine (Golgi modification method). Brain Nerve 1977 29 : 349 351. (Pubitemid 8090384)
4. Mizusawa H, Clark HB, Koeppen AH. Spinocerebellar ataxias. In : Dickson DW, ed. Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. Basel : ISN Neuropath Press, 2003 242 256.
5. Gomez CM, Thompson RM, Gammack JT et al. Spinocerebellar ataxia type 6. Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997 42 : 933 950. (Pubitemid 28008425)
6. Takahashi H, Ikeuchi T, Honma Y, Hayashi S, Tsuji S. Autosomal dominant cerebellar ataxia (SCA6). Clinical, genetic and neuropathological study in a family. Acta Neuropathol 1998 95 : 333 337. (Pubitemid 28142540)
7. Ishikawa K, Toru S, Tsunemi T et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 2005 77 : 280 296. (Pubitemid 41022710)
8. Ito H, Kawakami H, Wate R et al. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. Neurology 2006 67 : 1479 1481. (Pubitemid 44632080)
9. Urich H. The plasticity of the Purkinje cell. Clin Exp Neurol 1984 20 : 203 215.
10. Iwata M, Hirano A, French JH. Degeneration of the cerebellar system in X-chromosome-linked copper malabsorption. Ann Neurol 1979 5 : 542 549. (Pubitemid 9183594)
11. Perry TL, Kish SJ, Hinton D, Hansen S, Becker LE, Gelfand EW. Neurochemical abnormalities in a patient with ataxia-telangiectasia. Neurology 1984 34 : 187 191. (Pubitemid 14185362)
12. Del Bigio MR, Halliday WC. Multifocal atrophy of cerebellar internal granular neurons in Lesch-Nyhan disease. Case reports and review. J Neuropathol Exp Neurol 2007 66 : 346 353. (Pubitemid 46701316)
13. Yokoo H, Isoda K, Yamanouchi H et al. Cerebellar basket cells of Creutzfeldt-Jakob disease. Immuno histochemical and ultrastructural study. Pathol Intenatl 2000 50 : 291 296. (Pubitemid 30441280)
14. Purpura DP, Hirano A, French JH. Polydendritic Purkinje cells in X-chromosome linked copper malabsorption. A Golgi study. Brain Res 1976 117 : 125 129.
15. Williams RS, Marshall PC, Lott IT, Caviness VS. The cellular pathology of Menkes steely hair syndrome. Neurology 1978 28 : 575 583. (Pubitemid 8337958)
16. Tsuchiya K, Oda T, Yoshida M et al. Degeneration of the inferior olive in spinocerebellar ataxia 6 may depend on disease duration. Report of two autopsy cases and statistical analysis of autopsy cases reported to date. Neuropathology 2005 25 : 125 135. (Pubitemid 40571390)