Abstract:
OBJECTIVES:Spinocerebellar ataxia type 7 is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and retinal degeneration, described in various population groups in the literature. This is the first description from South Africa. The objective was to document the clinical and genetic characteristics of our patients and to determine concordance with other described cases. PATIENTS AND METHODS:The index cases were identified clinically on the basis of the typically described features of progressive ataxia with visual failure due to progressive cerebellar and retinal/macular degeneration. Associated neurological disturbances were documented. Where possible, and available, family members were assessed and pedigrees were delineated. Molecular tests for SCA expansions were determined in the index cases. RESULTS:Three pedigrees of SCA 7 were identified. The patients were all Black South Africans. The genetic and clinical characteristics are typical for SCA 7. CONCLUSION:SCA 7 is a rare distinct neurodegenerative disorder characterized by trinucleotide expansion.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Modi G,Modi M,Martinus I,Rodda J,Saffer Ddoi
10.1034/j.1600-0404.2000.101003177.xsubject
Has Abstractpub_date
2000-03-01 00:00:00pages
177-82issue
3eissn
0001-6314issn
1600-0404journal_volume
101pub_type
杂志文章abstract:OBJECTIVES:To measure clinical and immunological parameters in a patient with myasthenia gravis (MG) treated with antibodies against CD25 (basiliximab, Simulect). Patient and methods - Injections of basiliximab were given repeatedly together with cyclosporin A and corticosteroids for 9 months to a patient with severe M...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2007.00919.x
更新日期:2008-03-01 00:00:00
abstract::We report a case of a cystic lesion in the left cerebellopontine (CP) angle cistern. The magnetic resonance (MR) imaging features closely resembled an epidermoid inclusion cyst, and was interpreted as such. However, at surgery and on histopathological examination the lesion was found to be a cysticercus cyst. It may b...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1999.tb07359.x
更新日期:1999-04-01 00:00:00
abstract:UNLABELLED:The basal ganglia are thought to be involved in the primary dystonias, largely because of the repeated demonstration of neuropathological changes in these nuclei in the secondary dystonias. A hyperactivity of a network involving basal ganglia has been suggested in experimental animal dystonia. To test this h...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb07049.x
更新日期:1996-09-01 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:INTRODUCTION:Because of the limited information on cervical spondylotic radiculopathy, we conducted a door-to-door two-phase survey in a Sicilian municipality. MATERIAL AND METHODS:We first screened for cervical spondylotic radiculopathy among the inhabitants of the municipality: (N = 7653, as of the prevalence day, N...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1996.tb00196.x
更新日期:1996-02-01 00:00:00
abstract:OBJECTIVES:Orthostatic hypotension (OH) and postural orthostatic tachycardia syndrome (POTS) are well-known causes of orthostatic intolerance (OI). In addition, there are OI patients who are characterized by the symptoms of OI and lack of abnormal findings in head-up tilt (HUT) test. The aim of this study was to determ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12516
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:Multiple sclerosis (MS), Parkinson's disease (PD) and stroke (ST) subjects show balance impairments due to damage of the balance control system. The objective of the study was to assess the impact of MS, PD and ST on upright posture in eyes open condition and when visual and/or proprioceptive inputs are alter...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12466
更新日期:2016-05-01 00:00:00
abstract::A family with coincidence of a restless leg syndrome (RLS) in the mother and a Gilles de la Tourette syndrome (GTS) in the son who also shows increased vulnerability to neuroleptic induced akathisia (NIA) is presented. Since these diseases show parallels from a genetic, pathogenetic and clinical point of view, the fam...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1994.tb02661.x
更新日期:1994-06-01 00:00:00
abstract::Cyclic adenosine 3',5'-monophosphate (cAMP) and cyclic guanosine 3',5'-monophosphate (cGMP) were measured in cerebrospinal fluid (CSF) and plasma from 7 patients with bacterial meningitis, 9 patients with serous meningitis, 5 patients with idiopathic polyneuritis and 15 reference patients. A significantly (P less than...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1984.tb07796.x
更新日期:1984-03-01 00:00:00
abstract::The purpose of this study was to test the improved sensitivity of P3 abnormality in the detection of dementia using a variety of auditory stimuli. Improved detection was obtained using auditory stimuli that differed in their cognitive attributes and by using several P3 measures. These measures included P3 latencies an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00474.x
更新日期:1995-07-01 00:00:00
abstract::Over last fifty years, intravenous (iv) phenytoin (PHT) loading dose has been the treatment of choice for patients with benzodiazepine-resistant convulsive status epilepticus and several guidelines recommended this treatment regimen with simultaneous iv diazepam. Clinical studies have never shown a better efficacy of ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12928
更新日期:2018-06-01 00:00:00
abstract::The authors tested the effects of 2-Br-ergocriptine (bromocriptine, CB-154), a drug which exerts a mixed agonist-antagonist activity on the dopaminergic receptors, in 12 patients with Huntington Chorea in a double-blind crossover trial. This treatment significantly reduced the abnormal involuntary movements and the di...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1977.tb01407.x
更新日期:1977-07-01 00:00:00
abstract:OBJECTIVE:To investigate whether the cardiac R-R interval variation (RRIV) is of value in differentiating patients with Parkinson's disease (PD) from multiple system atrophy (MSA). BACKGROUND:RRIV assessment is a simple procedure, reflecting mainly vagal efferent activity. Reduced RRIV was reported in MSA. METHODS:RR...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00226.x
更新日期:2004-04-01 00:00:00
abstract:OBJECTIVES:The common prion protein gene (PRNP) codon 129 polymorphism modifies the susceptibility to and the phenotype of prion diseases. However, no truly representative normal population-based data, or data stratified according to age or gender are available on the distribution of this polymorphism. MATERIAL AND ME...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00199.x
更新日期:2003-11-01 00:00:00
abstract:OBJECTIVE:This study aimed to investigate the psychometric properties of the General Self-Efficacy Scale (GSE) in people with Parkinson's disease (PD). More specifically, we investigated data completeness, scaling assumptions, targeting, reliability, and construct validity. MATERIALS AND METHODS:This study involves da...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12368
更新日期:2015-08-01 00:00:00
abstract::In a previous study we found that nine of 47 siblings to multiple sclerosis (MS) patients with a normal neurological examination carry an intrathecal oligoclonal immunopathy with limited specificity, a condition we termed MS immunopathic trait. The purpose of this study is to further characterize the MS immunopathic t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00197.x
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:To evaluate the clinical course of patients with myasthenia gravis (MG) up to 3 months after double filtration plasmapheresis (DFP). MATERIAL AND METHODS:We recorded the MG score and measured the level of acetylcholine receptor antibody (AchRAb) at baseline and day 1 (D1), week 1 (W1), 1 month (M1), 2 (M2) a...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00107.x
更新日期:2003-09-01 00:00:00
abstract::Two patients who developed rhabdomyolysis secondary to generalized seizures are presented. Minor traumas of skeletal muscles due to seizures may be associated with myoglobinuria and the development of acute renal failure. The diagnosis rhabdomyolysis may easily be confirmed by following serum creatine kinase. Myoglobi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03746.x
更新日期:1989-03-01 00:00:00
abstract:OBJECTIVES:Comprehensive epidemiologic data for multiple sclerosis (MS) in Spain are limited. The aim of this study was to collect epidemiologic data on MS in the Northern Seville District of Spain. MATERIALS AND METHODS:This longitudinal study identified possible MS cases every year from nine centres between 1 Januar...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究
doi:10.1111/ane.12363
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVES:To explore adherence, persistence, and treatment patterns in patients with multiple sclerosis (MS) in Finland treated with disease-modifying therapies (DMTs) for active MS in 2005-2018. MATERIALS AND METHODS:The study cohort was identified using the Drug Prescription Register of Social Insurance Institute, ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13301
更新日期:2020-12-01 00:00:00
abstract:MATERIALS AND METHODS:In a prospective study we evaluated patients with first generalized tonic-clonic seizure (GTCS) (n = 16, age: 31 +/- 11 years, 8 women) and patients with vaso-vagal syncope (VVS) (n = 17, age: 32 +/- 13 years, 8 women), diagnosed on the basis of past history and clinical presentation who had serum...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1997.tb00084.x
更新日期:1997-03-01 00:00:00
abstract::Cerebellar atrophy (CA) is a frequent finding in patients with chronic epilepsy. To find out whether the existence of CA has an influence on the tolerance of high-dose monotherapy with carbamazepine, we compared the lowest individual toxic serum levels in patients with complex focal seizures, with CA (n = 27) and with...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1994.tb01622.x
更新日期:1994-01-01 00:00:00
abstract::The spontaneous occurrence of blepharospasm and dystonic movements in face muscles, particularly those of the perioral and mandibular regions, has been named as Meige's disease which was first described by Henry Meige in 1910. We report the case of a woman with Meige's syndrome whose symptoms improved with the use of ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00624.x
更新日期:2006-07-01 00:00:00
abstract::The alteration of amino acids in cerebrospinal fluids (CSF) from 14 cases of Parkinson's disease, five cases of cerebellar degeneration and five cases of headache (control) was studied using high performance liquid chromatography. In patients with Parkinson's disease, it was found that the CSF level of GABA showed a s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03249.x
更新日期:1986-02-01 00:00:00
abstract:OBJECTIVES:Patients with Parkinson's disease (PD) and essential tremor (ET) have a higher risk of cognitive impairment than age-matched controls. Only a few small studies (11-18 subjects per group) have directly compared the cognitive profile of these conditions. Our aim was to compare the cognitive profile of patients...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12752
更新日期:2017-11-01 00:00:00
abstract::POEMS or Crow-Fukase syndrome is a multisystemic, clinically malignant disorder of obscure etiology. Peripheral neuropathy and plasma cell dyscrasia are central features. The authors now report 7 Chinese patients with this syndrome in which PCD or paraproteinemia were absent in 6, and 2 had a lymph node histology rese...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03916.x
更新日期:1989-12-01 00:00:00
abstract::Three-hundred and eighty-one children born with forceps delivery and 372 with normal delivery were followed up for 4-7 years. More children in the forceps group developed seizures than in normal group, i.e. 22:10. This was statistically significant (P less than 0.05). A prolonged follow-up is necessary for further obs...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01012.x
更新日期:1990-06-01 00:00:00
abstract::We assessed cognitive performance and its relationship with clinical and anatomic disease severity in MS with mild to moderate handicap; 34 definite MS and 18 healthy subjects matched for age and education were submitted to a neuropsychological test battery. Both groups were examined for anxiety. MS patients underwent...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05052.x
更新日期:1992-08-01 00:00:00
abstract::sHLA are secreted by B and T lymphocytes upon activation. These antigens are present in serum and cerebrospinal fluid (CSF). The establishment of a sHLA index, IH = (CSF sHLA/serum sHLA)/(CSF albumin/serum albumin) helped us to define that values above 9.7 reflect an intrathecal synthesis of these proteins. IH was sig...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb01580.x
更新日期:1990-07-01 00:00:00
abstract::The present paper reports a family settled in the northern part of Norway, with a hereditary neurological disorder consisting clinically of spastic paraplegia associated with neurogenic bladder disturbances and syndactylia. Nine out of 22 members in three generations exhibit these clinical features. The bladder distur...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1980.tb02993.x
更新日期:1980-01-01 00:00:00