Abstract:
OBJECTIVES:Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of motor neuron disease and frontotemporal lobar degeneration. The aim of this study was to assess the clinical variability in a large family carrying the p.Gly66Val mutation of the CHCHD10 gene. This mutation has recently been reported to cause late-onset spinal muscular atrophy (SMAJ) or sensorimotor axonal Charcot-Marie-Tooth neuropathy (CMT2) in the Finnish population. MATERIALS AND METHODS:Nine affected members of an extended Finnish pedigree were included in the study. Detailed clinical and neurophysiological examinations were performed. The CHCHD10 p.Gly66Val mutation was examined by Sanger sequencing. RESULTS:The heterozygous p.Gly66Val mutation was present in all affected individuals from whom a DNA sample was available. The clinical phenotype varied from proximal sensorimotor neuropathy to spinal muscular atrophy and in one case resembled motor neuron disease ALS at its early stages. The age of onset varied from 30 to 73 years. CONCLUSIONS:Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease. The spectrum of CHCHD10-related neuromuscular disease has widened rapidly, and we recommend keeping the threshold for genetic testing low particularly when dominant inheritance or mitochondrial pathology is present.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Pasanen P,Myllykangas L,Pöyhönen M,Kiuru-Enari S,Tienari PJ,Laaksovirta H,Toppila J,Ylikallio E,Tyynismaa H,Auranen Mdoi
10.1111/ane.12470subject
Has Abstractpub_date
2016-05-01 00:00:00pages
361-6issue
5eissn
0001-6314issn
1600-0404journal_volume
133pub_type
杂志文章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
abstract::A retrospective study of variations of therapeutic response (dyskinesia and on-off phenomenon) in Parkinson's disease was conducted on 278 patients treated with levodopa for at least 6 months and hospitalized at National Neurological Institute "C. Besta" of Milan between 1974 and 1984. Variations of therapeutic respon...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1990.tb00983.x
更新日期:1990-05-01 00:00:00
abstract:OBJECTIVE:To estimate the risk of multiple sclerosis (MS) by month of birth in Sweden. MATERIALS AND METHODS:Cases (n = 9361) were obtained from the Swedish MS Registry. All births in Sweden 1900-2007 served as controls (n = 12,116,853). The risk of MS was analyzed for each month of birth separately compared with birt...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01181.x
更新日期:2010-01-01 00:00:00
abstract::The influence of the rheological properties of the blood on cerebral perfusion is still unresolved. Data on normal subjects are lacking and difficulties arise regarding the effect of blood viscosity owing to its close relationship with hematocrit. For these reasons we have studied the relationship between two rheologi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb04046.x
更新日期:1992-04-01 00:00:00
abstract:BACKGROUND:There has been a long-standing interest in the possible role of the hippocampus in autism and both postmortem brain and neuroimaging studies have documented varying abnormalities in this limbic system structure. AIMS:This study investigates the density of subsets of hippocampal interneurons, immunostained w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01234.x
更新日期:2010-02-01 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::Sympathetic denervation of the brain vessels was performed uni- or bilaterally in 13 adult rabbits, and cortical cold lesions were induced bilaterally 10-18 days afterwards. After a further 4-35 days the vascular and morphological changes in the lesion areas were studied histologically and with angiography. No differe...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1976.tb04801.x
更新日期:1976-09-01 00:00:00
abstract:OBJECTIVE:Assessment of usefulness of magnetoencephalography (MEG) as a novel non-invasive technique in the diagnostic evaluation of patients with recurrent seizures after unsuccessful epilepsy surgery. MATERIAL AND METHODS:Seventeen patients in whom epilepsy surgery had failed underwent reevaluation by means of MEG i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07370.x
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Carotid artery disease (CAD) is able to critically impair cerebral autoregulation which increases the risk for stroke. As therapeutic strategy largely depends on the degree of CAD, we investigated whether this gradation is also related to significant changes in autoregulatory capacity. We applied...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00210.x
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVE:To determine characteristics, clinical significance, frequency, and mimics of restless legs syndrome (RLS) in a cohort of Wilson's disease (WD, n = 42/f = 18), compared to healthy, matched controls. MATERIALS AND METHODS:Structured clinical interviews (patients and caregiving family members), repeated neurol...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12585
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVE:To clarify the optimum trace count for jitter calculation. MATERIALS AND METHODS:Single-fiber electromyography was performed during voluntary contraction (VC-SFEMG) of extensor digitorum muscle in six healthy and five myasthenic subjects. Twenty single-fiber action potential (SFAP) pairs were recorded from e...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00120.x
更新日期:2003-10-01 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::A group of asymptomatic HIV-infected patients (CDC II and III) was followed-up over a two year period with semi-annual neuropsychological testing. Of the total sample of 36 subjects, all were retested at test two (T2), 19 at test three (T3) and 13 at test four (T4). A subgroup of subjects was further tested on a simpl...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04082.x
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVE:To selectively investigate postganglionic sympathetic cardiac neurons in patients with Parkinson's disease and autonomic failure. MATERIAL AND METHODS:Metaiodobenzylguanidine (MIBG) is a pharmacologically inactive analogue of noradrenaline, which is similarly metabolized in noradrenergic neurons. Therefore t...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb05958.x
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVES:To evaluate the presence of the afterdischarge activity following M- and F-waves in patients with peripheral neuropathies with or without muscle cramps. MATERIAL AND METHODS:Ten patients with peripheral neuropathies complaining of frequent muscle leg cramps (Group 1) and 14 patients with peripheral neuropat...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2000.102006359.x
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVES:Vascular endothelial growth factor (VEGF) acts in angiogenesis and neuroprotection, although the beneficial effects on experimental ischemic stroke (IS) have not been replicated in clinical studies. We investigated serum VEGF (s-VEGF) in the acute stage (baseline) and 3 months post-stroke in relation to stro...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13219
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVES:Posterior location affects the clinical presentation and outcome of ischemic stroke, but little is known about occipital intracerebral hemorrhage (ICH). We studied non-traumatic occipital ICH phenotype, outcome, and post-ICH epilepsy. MATERIALS AND METHODS:Occipital ICH patients were retrospectively identif...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13303
更新日期:2020-06-30 00:00:00
abstract::This study investigated the relationship between depression, physical disability, cognitive deficit and brain abnormalities on magnetic resonance imaging (MRI) in patients with early MS. Eighteen relapsing-remitting MS patients were evaluated: depression was diagnosed according to DSM-III R and measured by the MMPI de...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05100.x
更新日期:1992-10-01 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
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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
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journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01633.x
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of Rhesus anti-D immunoglobulin (anti-D) in patients with an autoimmune demyelinating neuropathy. MATERIAL AND METHODS:Three patients with an autoimmune mediated neuropathy received 1000 IU anti-D weekly for 2 months. RESULTS:Two patients worsened gradually during the treatment and...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07380.x
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess the role of transesophageal echocardiography in detecting the source of cerebral embolism in ischemic stroke patients and to evaluate the difference in occurrence of heart abnormalities in anterior and posterior circulation infarcts. MATERIAL AND METHODS:The study group i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb00610.x
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVES:We sought to assess the efficacy of subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD)-associated trunk posture abnormalities retrospectively analyzing data from 101 patients reporting mild-to-severe trunk posture abnormalities of a cohort of 216 PD patients treated with STN-DBS...
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pub_type: 杂志文章
doi:10.1111/ane.12889
更新日期:2018-05-01 00:00:00
abstract::During a thorough surveillance of viral infections of the central nervous system an outbreak of aseptic meningitis was discovered in the western part of Finland in late 1985. The 21 diseased young adults were carefully studied by different virological methods. A presumed viral etiology, in all cases of enteroviral ori...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb05457.x
更新日期:1987-05-01 00:00:00
abstract::This study investigated whether there are predictors for initial severity of ideomotor apraxia (IMA) in focal left-hemisphere vascular patients. One hundred and twenty-nine subjects were examined between 15 and 30 days post-onset. Twenty-five patients with bilateral lesions were also studied in order to delineate the ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1987.tb03557.x
更新日期:1987-08-01 00:00:00
abstract::The immediate effects of selective sympathetic and somatic blockades on pain and tactile allodynia in 12 patients with long-standing ophthalmic or high cervical postherpetic neuralgia were compared. For the duration of the somatic blockade, pain was completely abolished in 11 patients and allodynia in 8 patients. In c...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04923.x
更新日期:1991-08-01 00:00:00
abstract:INTRODUCTION:We planned a descriptive study on the incidence of intracranial gliomas spanning a 16-year period (1976-1991) in the Local Health Service 31 of Ferrara, Northern Italy. MATERIAL AND METHODS:We used a complete enumeration approach by reviewing all the possible sources of case collection available in the st...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1994.tb02730.x
更新日期:1994-11-01 00:00:00
abstract:OBJECTIVES:Evaluate interim long-term tolerability, safety and efficacy of adjunctive perampanel, a novel α-amino-3-hydroxy-5-methyl-5-isoxazolepropionic acid (AMPA)-receptor antagonist, in patients with refractory partial-onset seizures. MATERIALS AND METHODS:Study 207, an open-label extension (OLE) study (ClinicalTr...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/ane.12001
更新日期:2012-10-01 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