Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

Abstract:

:Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 Japanese families with autosomal dominant SCAs, for whom CAG repeat expansions of the SCA1, SCA2, Machado-Joseph disease/SCA3, and dentatorubral-pallidoluysian atrophy genes were excluded, and 5 apparently sporadic cases of cortical cerebellar atrophy. The diagnosis of SCA6 was confirmed in 30 families (31%) comprising 47 affected individuals and 1 sporadic case. The size of expanded CAG repeats ranged from 21 to 26 repeat units and was found to be correlated inversely with age at onset. We identified 2 SCA6 patients homozygous for expanded CAG repeats, whose ages at onset were earlier than the 95% lower confidence level, suggesting the presence of a gene dosage effect of expanded CAG repeat. Ataxia is the most common initial symptom found in 45 of the 48 patients. Patients with a prolonged disease course showed other accompanying clinical features including dystonic postures, involuntary movements, and abnormalities in tendon reflexes.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Ikeuchi T,Takano H,Koide R,Horikawa Y,Honma Y,Onishi Y,Igarashi S,Tanaka H,Nakao N,Sahashi K,Tsukagoshi H,Inoue K,Takahashi H,Tsuji S

doi

10.1002/ana.410420609

subject

Has Abstract

pub_date

1997-12-01 00:00:00

pages

879-84

issue

6

eissn

0364-5134

issn

1531-8249

journal_volume

42

pub_type

杂志文章
  • Gene delivery of neurturin to putamen and substantia nigra in Parkinson disease: A double-blind, randomized, controlled trial.

    abstract:OBJECTIVE:A 12-month double-blind sham-surgery-controlled trial assessing adeno-associated virus type 2 (AAV2)-neurturin injected into the putamen bilaterally failed to meet its primary endpoint, but showed positive results for the primary endpoint in the subgroup of subjects followed for 18 months and for several seco...

    journal_title:Annals of neurology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1002/ana.24436

    authors: Warren Olanow C,Bartus RT,Baumann TL,Factor S,Boulis N,Stacy M,Turner DA,Marks W,Larson P,Starr PA,Jankovic J,Simpson R,Watts R,Guthrie B,Poston K,Henderson JM,Stern M,Baltuch G,Goetz CG,Herzog C,Kordower JH,Alt

    更新日期:2015-08-01 00:00:00

  • Alzheimer's disease: a study of epidemiological aspects.

    abstract::A case-control study was performed to determine the possible roles of various environmental factors, prior illnesses, drug use, and personal habits in the development of Alzheimer's disease. Such information was collected from 40 patients with onset of dementia prior to age 70 and from 80 community control subjects ma...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410150406

    authors: Heyman A,Wilkinson WE,Stafford JA,Helms MJ,Sigmon AH,Weinberg T

    更新日期:1984-04-01 00:00:00

  • Alzheimer-related neuronal protein A68: specificity and distribution.

    abstract::We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410220412

    authors: Wolozin B,Davies P

    更新日期:1987-10-01 00:00:00

  • Inflammatory intrathecal profiles and cortical damage in multiple sclerosis.

    abstract:OBJECTIVE:Gray matter (GM) damage and meningeal inflammation have been associated with early disease onset and a more aggressive disease course in multiple sclerosis (MS), but can these changes be identified in the patient early in the disease course? METHODS:To identify possible biomarkers linking meningeal inflammat...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.25197

    authors: Magliozzi R,Howell OW,Nicholas R,Cruciani C,Castellaro M,Romualdi C,Rossi S,Pitteri M,Benedetti MD,Gajofatto A,Pizzini FB,Montemezzi S,Rasia S,Capra R,Bertoldo A,Facchiano F,Monaco S,Reynolds R,Calabrese M

    更新日期:2018-04-01 00:00:00

  • Excitotoxicity, free radicals, and cell membrane changes.

    abstract::Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审

    doi:10.1002/ana.410350707

    authors: Dugan LL,Choi DW

    更新日期:1994-01-01 00:00:00

  • Perinatal risk factors in children with serious motor and mental handicaps.

    abstract::Fifty children with marked neurological abnormality manifested by moderate or severe motor disability and severe mental retardation were compared with a large control population with respect to prospectively ascertained perinatal characteristics. None of 60 prenatal factors distinguished the affected group from contro...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410020505

    authors: Nelson KB,Broman SH

    更新日期:1977-11-01 00:00:00

  • Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study.

    abstract:OBJECTIVE:To conduct complex segregation analyses of Parkinson's disease (PD). METHODS:Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.20844

    authors: McDonnell SK,Schaid DJ,Elbaz A,Strain KJ,Bower JH,Ahlskog JE,Maraganore DM,Rocca WA

    更新日期:2006-05-01 00:00:00

  • The pressure difference between eye and brain changes with posture.

    abstract:OBJECTIVE:The discovery of a posture-dependent effect on the difference between intraocular pressure (IOP) and intracranial pressure (ICP) at the level of lamina cribrosa could have important implications for understanding glaucoma and idiopathic intracranial hypertension and could help explain visual impairments in as...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.24713

    authors: Eklund A,Jóhannesson G,Johansson E,Holmlund P,Qvarlander S,Ambarki K,Wåhlin A,Koskinen LO,Malm J

    更新日期:2016-08-01 00:00:00

  • Effects of hypothermia on the human brainstem auditory response.

    abstract::Latency measurements between three potentials (waves I, III, and IV/V) of the human brainstem auditory response can allow early detection of certain posterior fossa lesions. The diagnostic use of these interwave latencies requires knowledge of what factors may prolong them in the absence of disease. Hypothermia appear...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410030416

    authors: Stockard JJ,Sharbrough FW,Tinker JA

    更新日期:1978-04-01 00:00:00

  • Distal neuropathy in experimental diabetes mellitus.

    abstract::Although nerve conduction slowing is a well-accepted abnormality in rats with acute experimental diabetes, reports of neuropathological changes in diabetic rat nerves have been inconsistent. To examine this further, we studied electrophysiological and morphological features of posterior tibial nerves and their distal ...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410080207

    authors: Brown MJ,Sumner AJ,Greene DA,Diamond SM,Asbury AK

    更新日期:1980-08-01 00:00:00

  • Interneuron activity leads to initiation of low-voltage fast-onset seizures.

    abstract::Seizures in temporal lobe epilepsy can be classified as hypersynchronous and low-voltage fast according to their onset patterns. Experimental evidence suggests that low-voltage fast-onset seizures mainly result from the synchronous activity of γ-aminobutyric acid-releasing cells. In this study, we tested this hypothes...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.24342

    authors: Shiri Z,Manseau F,Lévesque M,Williams S,Avoli M

    更新日期:2015-03-01 00:00:00

  • Conjugal multiple sclerosis: population-based prevalence and recurrence risks in offspring. Canadian Collaborative Study Group.

    abstract::From a population-based sample of 15,504 patients attending Canadian multiple sclerosis (MS) clinics, we have determined the frequency of conjugal MS and have estimated the recurrence risk in offspring of such matings. Twenty-three MS cases were found among 13,550 spouses of study probands for a crude conjugal rate of...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:

    authors: Ebers GC,Yee IM,Sadovnick AD,Duquette P

    更新日期:2000-12-01 00:00:00

  • Stimulus rate determines regional brain blood flow in striate cortex.

    abstract::Intravenous bolus administration of oxygen 15-labeled water and positron emission tomography were used to measure changes in brain blood flow induced by two modes of photic stimuli over a wide range of repetition rates. These stimuli (patterned-flash and reversing checkerboard) were chosen in order to determine whethe...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410170315

    authors: Fox PT,Raichle ME

    更新日期:1985-03-01 00:00:00

  • Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

    abstract::The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leig...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.25789

    authors: Alves CAPF,Teixeira SR,Martin-Saavedra JS,Guimarães Gonçalves F,Lo Russo F,Muraresku C,McCormick EM,Falk MJ,Zolkipli-Cunningham Z,Ganetzky R,Vossough A,Goldstein A,Zuccoli G

    更新日期:2020-08-01 00:00:00

  • Role of infection in Guillain-Barré syndrome: laboratory confirmation of herpesviruses in 41 cases.

    abstract::Serological evidence of either acute cytomegalovirus (CMV) or Epstein-Barr virus (EBV) infection was sought in a large series of patients with Guillain-Barré syndrome (GBS) and control subjects. Using an indirect immunofluorescent technique, IgM antibody directed against CMV was found in the serum of 33 of 220 GBS pat...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410090709

    authors: Dowling PC,Cook SD

    更新日期:1981-01-01 00:00:00

  • Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis.

    abstract::Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees with...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410430514

    authors: Aoki M,Lin CL,Rothstein JD,Geller BA,Hosler BA,Munsat TL,Horvitz HR,Brown RH Jr

    更新日期:1998-05-01 00:00:00

  • Glutamate receptor-mediated ischemic injury of premyelinated central axons.

    abstract:OBJECTIVE:Ischemic injury of axons is a feature of periventricular leukomalacia, a pathological correlate of cerebral palsy. Recent evidence suggests that axons are damaged before they receive the first layer of compact myelin. Here we examine the cellular mechanisms underlying ischemic-type injury of premyelinated cen...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.21767

    authors: Alix JJ,Fern R

    更新日期:2009-11-01 00:00:00

  • Does obstetric brachial plexus injury influence speech dominance?

    abstract:OBJECTIVE:Right-handedness and left-sided language lateralization is an unresolved mystery with unknown cause/effect relations. Most studies suggest that the language lateralization is related to a fundamental brain asymmetry: right-handedness may be secondary. We analyzed the possibility of an opposite cause/effect re...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.21538

    authors: Auer T,Pinter S,Kovacs N,Kalmar Z,Nagy F,Horvath RA,Koszo B,Kotek G,Perlaki G,Koves M,Kalman B,Komoly S,Schwarcz A,Woermann FG,Janszky J

    更新日期:2009-01-01 00:00:00

  • The first decade of molecular genetics in neurology: changing clinical thought and practice.

    abstract::Molecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested ...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审

    doi:10.1002/ana.410320213

    authors: Rowland LP

    更新日期:1992-08-01 00:00:00

  • Glucose metabolism and serotonin receptors in the frontotemporal lobe degeneration.

    abstract::In patients with the frontal variant of frontotemporal lobar degeneration (fv-FTLD), behavioral abnormalities may vary from apathy with motor slowness (apathetic form) to disinhibition with agitation (disinhibited form). These clinical presentations may be related to specific regional cerebral dysfunction and to defic...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.20365

    authors: Franceschi M,Anchisi D,Pelati O,Zuffi M,Matarrese M,Moresco RM,Fazio F,Perani D

    更新日期:2005-02-01 00:00:00

  • The role of scanpaths in facial recognition and learning.

    abstract::We carried out a comprehensive assessment of eye movements in 2 subjects with impaired facial learning and recognition to determine if the defect might be associated with abnormal scanning of faces. Standard electroculogram showed that fixation, pursuit, saccades, and scanning of salient features of scenes and faces w...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410220111

    authors: Rizzo M,Hurtig R,Damasio AR

    更新日期:1987-07-01 00:00:00

  • Detection of isolated cerebrovascular beta-amyloid with Pittsburgh compound B.

    abstract::Imaging of cerebrovascular beta-amyloid (cerebral amyloid angiopathy) is complicated by the nearly universal overlap of this pathology with Alzheimer's pathology. We performed positron emission tomographic imaging with Pittsburgh Compound B on 42-year-old man with early manifestations of Iowa-type hereditary cerebral ...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.21528

    authors: Greenberg SM,Grabowski T,Gurol ME,Skehan ME,Nandigam RN,Becker JA,Garcia-Alloza M,Prada C,Frosch MP,Rosand J,Viswanathan A,Smith EE,Johnson KA

    更新日期:2008-11-01 00:00:00

  • Alzheimer's disease and Parkinson's disease: distinct entities or extremes of a spectrum of neurodegeneration?

    abstract::Alzheimer's disease (AD) and Parkinson's disease (PD) are generally considered to be separate and distinct disease entities. However, a considerable amount of evidence demonstrates that these disorders share common clinical and neuropathologic features and that overlap between the two conditions is extensive. For exam...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审

    doi:10.1002/ana.410440705

    authors: Perl DP,Olanow CW,Calne D

    更新日期:1998-09-01 00:00:00

  • Genetic evidence for the involvement of tau in progressive supranuclear palsy.

    abstract::A dinucleotide repeat polymorphism in a tau intron was identified and used in a case-control study to analyze the genetic association of tau with several neurodegenerative diseases with tau pathology. Subjects with the homozygous tau AO alleles were excessively represented in the progressive supranuclear palsy (PSP) g...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410410222

    authors: Conrad C,Andreadis A,Trojanowski JQ,Dickson DW,Kang D,Chen X,Wiederholt W,Hansen L,Masliah E,Thal LJ,Katzman R,Xia Y,Saitoh T

    更新日期:1997-02-01 00:00:00

  • Devic's neuromyelitis optica: a clinicopathological study of 8 patients.

    abstract::We report the clinical, imaging, and laboratory features of 8 patients with Devic's neuromyelitis optica. All patients had severe myelopathy and optic neuritis. In no patient was the brain, the brainstem, or the cerebellum affected, even after several years of disease. Various immunosuppressive treatments failed to be...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410340211

    authors: Mandler RN,Davis LE,Jeffery DR,Kornfeld M

    更新日期:1993-08-01 00:00:00

  • Epstein-Barr virus meningoencephalitis with a lymphoma-like response in an immunocompetent host.

    abstract::We report the clinical and neuropathological findings in an immunocompetent 19-year-old patient with a fatal acute Epstein-Barr virus (EBV) meningoencephalitis and a lymphoma-like B-lymphocyte response. Our results suggest that an immunotoxic rather than direct viral neuronal invasion mediates brain damage in EBV ence...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/1531-8249(199905)45:5<659::aid-ana16>3.0.c

    authors: Schellinger PD,Sommer C,Leithäuser F,Schwab S,Storch-Hagenlocher B,Hacke W,Kiessling M

    更新日期:1999-05-01 00:00:00

  • Abnormal pattern electroretinograms in patients with senile dementia of the Alzheimer type.

    abstract::Patients with senile dementia of the Alzheimer type frequently have difficulty performing visual tasks. These difficulties may be due, at least partially, to degenerative changes in both the primary visual pathway and the visual association areas. To determine whether retinal ganglion cell dysfunction contributes to v...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.410260208

    authors: Trick GL,Barris MC,Bickler-Bluth M

    更新日期:1989-08-01 00:00:00

  • Brain impairment in well-nourished chronic alcoholics is related to ethanol intake.

    abstract::To determine the influence of chronic ethanol intake on the central nervous system, we studied 40 asymptomatic, well-nourished, chronic alcoholics (mean age, 42.6 +/- 9.1 years) and 20 age-, sex-, and education-matched control subjects. Studies included neuropsychological testing, visual and short-latency auditory evo...

    journal_title:Annals of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ana.410410507

    authors: Nicolás JM,Estruch R,Salamero M,Orteu N,Fernandez-Solà J,Sacanella E,Urbano-Márquez A

    更新日期:1997-05-01 00:00:00

  • Anterior temporal laterality in primary progressive aphasia shifts to the right.

    abstract::In aphasia due to stroke, language-related activity shifts not only to undamaged cortex within the dominant hemisphere but also toward right-sided areas homotopical to the left-sided lesion. We examined whether a rightward shift takes place in primary progressive aphasia (PPA). Nineteen PPA patients participated, 19 h...

    journal_title:Annals of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ana.20588

    authors: Vandenbulcke M,Peeters R,Van Hecke P,Vandenberghe R

    更新日期:2005-09-01 00:00:00

  • Alpha-synuclein pathology does not predict extrapyramidal symptoms or dementia.

    abstract::Intracytoplasmic aggregation of alpha-synuclein protein as Lewy bodies in the brainstem neurons is diagnostic for Parkinson's disease, whereas if this process also occurs in the cortical neurons, it is considered pathognomonic for dementia with Lewy bodies. However, the link between alpha-synuclein incorporation into ...

    journal_title:Annals of neurology

    pub_type: 杂志文章

    doi:10.1002/ana.20321

    authors: Parkkinen L,Kauppinen T,Pirttilä T,Autere JM,Alafuzoff I

    更新日期:2005-01-01 00:00:00