TITLE

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1

AUTHOR(S)
Jöbsis, G J; Weber, J W; Barth, P G; Keizers, H; Baas, F; van Schooneveld, M J; van Hilten, J J; Troost, D; Geesink, H H; Bolhuis, P A
PUB. DATE
April 1997
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Apr1997, Vol. 62 Issue 4, p367
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
No abstract available.
ACCESSION #
66117956

 

Related Articles

  • Brain pathology of spinocerebellar ataxias. Seidel, Kay; Siswanto, Sonny; Brunt, Ewout; Dunnen, Wilfred; Korf, Horst-Werner; Rüb, Udo // Acta Neuropathologica;Jul2012, Vol. 124 Issue 1, p1 

    The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The current classification of this disease group is based on the underlying genetic defects and their typical disease courses....

  • Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. Hirano, Ryuki; Takashima, Hiroshi; Okubo, Ryuichi; Tajima, Keiko; Okamoto, Yuji; Ishida, Shimon; Tsuruta, Kazuhito; Arisato, Takayo; Arata, Hitoshi; Nakagawa, Masanori; Osame, Mitsuhiro; Arimura, Kimiyoshi // Neurogenetics;Dec2004, Vol. 5 Issue 4, p215 

    The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. To date, at least 11 genes and 13 additional loci have been identified in ADCAs. Despite phenotypic differences, spinocerebellar ataxia 4 (SCA4) and Japanese 16q-linked ADCA type...

  • Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. Shimizu, Yusaku; Yoshida, Kunihiro; Okano, Tomomi; Ohara, Shinji; Hashimoto, Takao; Fukushima, Yoshimitsu; Ikeda, Shu-ichi // Journal of Human Genetics;2004, Vol. 49 Issue 11, p610 

    The frequency of autosomal-dominant cerebellar ataxia (ADCA) subtypes was examined in 86 unrelated families originating from Nagano prefecture. In Nagano, the prevalence of spinocerebellar degeneration (SCD) was approximately 22 per 100,000 population. Among ADCA families, SCA6 was the most...

  • The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread. Mancuso, M.; Orsucci, D.; Siciliano, G.; Bonuccelli, U. // Journal of Neurology;Sep2014 Supplement, Vol. 261, p528 

    Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias (ARCAs), two X-linked ataxias, and several forms of ataxia associated with mitochondrial defects. Despite the steady...

  • Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan. Hirano, Ryuki; Takashima, Hiroshi; Okubo, Ryuichi; Okamoto, Yuji; Maki, Yoshimitsu; Ishida, Shimon; Suehara, Masahito; Hokezu, Youichi; Arimura, Kimiyoshi // Journal of Human Genetics;Jul2009, Vol. 54 Issue 7, p377 

    16q-ADCA (OMIM no. 117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and −16C>T substitution of the puratrophin-1 gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to...

  • Autosomal Dominant Spinocerebellar Ataxias: An Asian Perspective. Tan, E.K. // Canadian Journal of Neurological Sciences;Nov2003, Vol. 30 Issue 4, p361 

    Looks at autosomal dominant spinocerebellar ataxias (ADCA) from an Asian perspective. Clinical classification of (ADCA); Genetic classification; Prevalence of spinocerebellar ataxia in Asian countries, including Japan, China and Taiwan, and India; Genotypic and phenotypic features;...

  • Clinical and genetic analysis of spinocerebellar ataxia type 11. Johnson, Janel; Wood, Nicholas; Giunti, Paola; Houlden, Henry // Cerebellum;Jun2008, Vol. 7 Issue 2, p159 

    The autosomal dominant cerebellar ataxias (ADCAs) are a genetically heterogeneous group of disorders. Clinical classification of the ADCAs into three types has facilitated defining phenotypes and in turn, linkage analysis, which has led to the discovery of 30 loci and 16 genes. The type III...

  • Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Fujioka, Shinsuke; Sundal, Christina; Wszolek, Zbigniew K. // Orphanet Journal of Rare Diseases;2013, Vol. 8 Issue 1, p1 

    Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood;...

  • Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. Basri, Rehana; Yabe, Ichiro; Soma, Hiroyuki; Sasaki, Hidenao // Journal of Human Genetics;Oct2007, Vol. 52 Issue 10, p848 

    Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders. To shed further light on the clinical and genetic spectrum of ADCA in Japan, we conducted a study to determine the frequency of a new variety of different subtypes of SCAs among ADCA...

  • Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics. Whaley, Nathaniel Robb; Fujioka, Shinsuke; Wszolek, Zbigniew K. // Orphanet Journal of Rare Diseases;2011, Vol. 6 Issue 1, p33 

    Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sign out of this library

Other Topics