Abstract:
:The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene on chromosome 4. A simple polymerase chain reaction assay has been used for the assessment of the (CAG)n expansion in a 72-year-old woman with typical HD symptoms, but no family history of the disorder. The DNA analysis showed that the patient had an allele with 41 repeat units, in the size range seen in HD chromosomes. Therefore, HD diagnosis is confirmed in this seemingly sporadic case and the disease is newly diagnosed in a large family. The risk of inheriting this unstable expanded allele is discussed. INTRODUCTION--The discovery of an expansion of a trinucleotide (CAG) repeat region in the IT15 gene on the short arm of chromosome 4 has identified the mutational mechanism causing Huntington's disease (HD) and enables the direct diagnosis of affected subjects based on DNA analysis alone. Here a 72-year-old woman with typical HD symptoms, but no family history of the disorder, has been unambiguously diagnosed by using a quick DNA analysis. This is relevant because the disease is newly diagnosed in a large family. MATERIAL AND METHODS--A labelled polymerase chain reaction (PCR) test has been used to amplify the repeat region of the IT15 gene and DNA fragments were analyzed by Polyacrylamide gel electrophoresis. RESULTS--The number the CAG repeats in the proband displayed two alleles of 23 and 41 repeats, respectively. Since normal chromosomes are reported to contain 11-34 repeats, the clinical appearance of HD in the proband is explained by the presence of the repeat expansion. DISCUSSION--The parents of the proposita both died aged over 80 y apparently without neurological signs referable to HD. Hence, this is presumably a sporadic case of the disease. Because of the length of 41 repeats of this HD chromosome, offspring of this proband could inherit the expanded allele with 37 repeats, as expected for the reversal of the trinucleotide expansion. A subject with this intermediate allele could be affected, but would not be affected if the HD IT gene with reduced triplets had recovered its normal function. Thus, in a seemingly sporadic case like the one reported here, despite the PCR analysis, the risk of transmission of HD to her offspring may remain uncertain.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Bozza A,Malagù S,Calzolari E,Novelletto A,Pavoni M,del Senno Ldoi
10.1111/j.1600-0404.1995.tb01026.xsubject
Has Abstractpub_date
1995-08-01 00:00:00pages
132-4issue
2eissn
0001-6314issn
1600-0404journal_volume
92pub_type
杂志文章abstract::Ten patients with pseudotumor cerebri were studied. The diagnosis was based on bilateral papilledema and absence of intracranial masses and hydrocephalus. Based on the radiological findings, three groups of patients emerged: (A) Five patients with an empty sella. Four had an enlarged sella; (B) Two patients with a pit...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb06869.x
更新日期:1982-10-01 00:00:00
abstract::We present 2 sibs with autosomal recessive spastic paraparesis and severe amyotrophy of the distal limb muscles. Elaborate neurophysiologic studies disclosed slight to moderate slowing of motor conduction, moderate to severe reduction of motor action potentials, denervation potentials, and increased distal motor laten...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04133.x
更新日期:1993-06-01 00:00:00
abstract:BACKGROUND AND AIMS:Recognition of stroke symptoms and activation of emergency services are essential in minimizing delay for acute stroke treatments. In this study, we assessed public stroke awareness in Sweden. METHODS:One thousand and five hundred residents aged 18-79 years participated in a telephone survey. Open-...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12293
更新日期:2014-12-01 00:00:00
abstract::Beta-2-microglobulin (beta 2m) levels were studied in the cerebrospinal fluid (CSF) and plasma of 52 patients with clinically definite multiple sclerosis (MS) and of 14 with aseptic meningo-encephalitis (AM). Reference values for beta 2m were defined in 72 subjects of different age groups with tension headache (TH). P...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03934.x
更新日期:1989-12-01 00:00:00
abstract::Multiple system atrophy (MSA) is a heterogeneous group of central neurological degenerations often associated with diffuse deterioration of the hypothalamic cholinergic neurons. In the hypothesis of an altered cholinergic regulation of vasopressin release, we evaluated vasopressin response to metoclopramide (20 mg i.v...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04047.x
更新日期:1992-04-01 00:00:00
abstract:BACKGROUND:Autoimmune encephalitis (AE) is a rare but debilitating neurological disease where the body develops antibodies against neuronal cell surface/synaptic proteins. Rituximab is an anti-CD20 chimeric monoclonal antibody which shows promise in AE treatment observational studies. To our knowledge, there has been n...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析,评审
doi:10.1111/ane.13291
更新日期:2020-11-01 00:00:00
abstract:OBJECTIVES:Alzheimer's disease assessment scale-cognitive subscale (ADAS-Cog) has become a standard clinical trials outcome for cognition, but has been recognized as deficient in areas including coverage of cognitive domains, sensitivity and standardization. Computerized test batteries may address some of these issues....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01309.x
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of G88C, G209A and any other mutation(s) in exons 3 and 4 of the alpha-synuclein gene in Indian patients with Parkinson's disease (PD). METHODS:A total of 169 PD patients comprising 18 familial, 3 juvenile, 48 early onset and 100 sporadic cases were included in this study. Genom...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.103002120.x
更新日期:2001-02-01 00:00:00
abstract::Patients with acute severe headache may have a secondary form of headache. Standard head computer tomography (CT) and cerebrospinal fluid (CSF) examination are often performed in the absence of neurological deficits to exclude subarachnoid hemorrhage (SAH). Increasingly, patients undergo subsequent CT angiography (CTA...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12302
更新日期:2015-03-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb00384.x
更新日期:1999-10-01 00:00:00
abstract::The possibility of disturbed dopamine and serotonin metabolism in senile dementia of Alzheimer type was studied. The basal concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) were studied in 28 patients with senile dementia of Alzheimer type and in 13 controls...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1981.tb04392.x
更新日期:1981-08-01 00:00:00
abstract:BACKGROUND:Cystatin C (CysC) is associated with many neurodegenerative disorders and autoimmune diseases, but its relationship with anti-N-Methyl-D-aspartate receptor (anti-NMDAR) encephalitis is unknown. METHODS:Serum levels of CysC were determined in 66 patients with anti-NMDAR encephalitis and 115 healthy controls....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12894
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:To clarify how chronic solvent abuse affects cognitive function using magnetic resonance imaging as an index of brain damage. MATERIAL AND METHODS:A total of 25 chronic solvent abusers underwent magnetic resonance imaging with quantitative neurometry and Wechsler Adult Intelligence Scales revised. RESULTS:T...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00235.x
更新日期:1997-07-01 00:00:00
abstract::50 open-heart patients were investigated using simultaneous clinical, electroencephalographical (EEG) and neuropsychological evaluation in order to assess the possibilities of predicting the postoperative outcome with preoperative measures. The presence of one or more of the following indices was prognostically unfavo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb04535.x
更新日期:1982-12-01 00:00:00
abstract:OBJECTIVES:Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the common features of neurodegeneration in multiple sclerosis (MS), FTD and ALS, sequence variants of the DCTN1 gene...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00884.x
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVES:Cerebrospinal fluid (CSF) from some patients with amyotrophic lateral sclerosis (ALS) has been demonstrated to significantly reduce the neuronal viability of primary cell cultures of motor neurons. We aimed to study the potential clinical consequences associated with the cytotoxicity of CSF in a cohort of pa...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12717
更新日期:2017-09-01 00:00:00
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01627.x
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Post-stroke cognitive impairment (PSCI) occurs commonly and is linked with development of dementia. We investigated the relationship between demographic, clinical and stroke symptoms at stroke onset and the presence of PSCI at 1 and 3 years after stroke. METHODS:We accessed anonymized data from the Virtual ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12637
更新日期:2017-06-01 00:00:00
abstract::We present clinical and virological data on 9 patients, 7 women and 2 men aged 31-56 years, with recurrent aseptic meningitis (Mollaret's meningitis). Polymerase chain reaction detected Herpes simplex virus type 2 DNA in cerebrospinal fluid samples from all patients collected during their latest attacks of meningitis....
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07296.x
更新日期:1998-09-01 00:00:00
abstract::There has been considerable interest in the possible association between impaired glucose tolerance (IGT) and neuropathy. A systematic literature search (Medline) and review was here performed. Twenty-three studies were evaluated. Fourteen investigated for the presence of neuropathy in patients with IGT. Nine studied ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2010.01425.x
更新日期:2011-07-01 00:00:00
abstract::Among industrial solvents in present use trichloroethylene belongs to those which have been the concern of most neurological and occupational investigations since the beginning of this century. Reports on a broad spectrum of neurotoxicity are however mostly based on case-studies and accidental circumstances. The objec...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04101.x
更新日期:1993-03-01 00:00:00
abstract:OBJECTIVE:We wanted to describe the use of thrombolytic treatment for stroke in Scandinavia, to assess stroke doctors' opinions on this treatment, to identify barriers against treatment, and to suggest improvements to overcome these barriers. METHODS:We sent questionnaires to 493 Scandinavian doctors, who were involve...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01162.x
更新日期:2009-10-01 00:00:00
abstract::Twenty solvent-exposed workers, most of them painters, had been diagnosed as cases of toxic encephalopathy in 1978/79. Two years later they were re-examined with an extensive battery of neuropsychological tests. Their performance was unchanged on retesting. We have now compared their test results with those of non-exp...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb05913.x
更新日期:1988-04-01 00:00:00
abstract::Genetic investigation of 74 patients with temporal lobe epilepsy, resistant to medication, who underwent unilateral temporal lobectomy 1960-1969. Thirty per cent had a positive family history of epilepsy; 49 per cent of other neurological diseases; and 46 per cent of major psychiatric disorders. Neither of the genetic...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1975.tb05833.x
更新日期:1975-11-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Cerebral infarcts occur more frequently along the middle (MCA) than the anterior cerebral artery (ACA) territory. The reason(s) for this difference remains speculative. The objective of this study was to investigate the distribution of cerebral microemboli as detected by transcranial Doppler ultr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.101002122.x
更新日期:2000-02-01 00:00:00
abstract::An EEG study of 64 Danish Turner girls and age-matched controls was made. The characteristic findings in the basic EEG rhythms of Turner girls were: 1) alpha activity of more rapid frequency (10.5+ Hz), lower amplitude (-20 microV, lower amount (-30%) and diffuse areas, 2) beta activity of slower frequency (14-18 Hz),...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb00919.x
更新日期:1985-12-01 00:00:00
abstract::Amino acid concentrations in plasma of patients with Huntington's disease (HD) were determined in 16 patients and 21 age- and sex-matched healthy controls. Alanine and isoleucine were significantly decreased in HD plasma whereas arginine, histidine, leucine, lysine, ornithine, proline, serine, threonine, tyrosine, and...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00438.x
更新日期:1995-03-01 00:00:00
abstract::L-Deprenyl, a specific monoamine oxidase subtype B inhibitor, has been reported a valuable adjunct to conventional treatment of Parkinsonism. A double-blind cross-over controlled study was performed in 19 parkinsonian patients with on-off type problems. Five mg L-Deprenyl per day reduced the number of on-off episodes....
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1985.tb03233.x
更新日期:1985-06-01 00:00:00
abstract::Recurrent herpes zoster myelitis is very rare. However, a case was recently observed in our hospital. A 43-year-old woman developed myelitis 2 weeks after development of shingles. Her condition was improved by methylprednisolone. Seven months later, she developed myelitis after development of shingles again. Antibody ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04064.x
更新日期:1992-05-01 00:00:00
abstract:OBJECTIVES:We aimed to investigate associations between neuropsychological indices and normalized volumes of supratentorial structures, and the area of the corpus callosum. MATERIALS AND METHODS:We studied 40 patients with clinically definite MS, using 3D-acquired MRI (MPRAGE, Magnetization Prepared Rapid Acquisition ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.00270.x
更新日期:2001-10-01 00:00:00