Abstract:
BACKGROUND:Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onset SMA types 1-3a has been studied extensively. Late onset SMA is rare and disease course has not been studied in detail. OBJECTIVE:To perform a prospective study on the clinical course and the correlation with SMN2 copy numbers of late onset SMA. METHODS:Patients fulfilling the diagnostic criteria for late onset SMA (types 3b and 4) were included in the study. At inclusion and follow-up, muscle strength, respiratory function, functional status and quality of life were assessed. SMN2 copy number was determined in all patients. RESULTS:Twelve patients were identified and included. Six patients were siblings from one family, two patients were brothers from a second family and four patients were sporadic cases. All patients carried four copies of the SMN2 gene. Median age of disease onset was 22.2 years (10-37). Age of disease onset in patients from family one was lower as compared to the other patients. None of the outcome measures changed after a follow-up of 2.5 years. Five patients reported an increase in fatigue and muscle weakness. None of the patients showed symptoms of respiratory insufficiency. CONCLUSIONS:This study indicates that late onset SMA is not characterized by disease progression and that alternative or surrogate disease markers are required for the design of future trials. This study confirms the finding that SMN2 copy number is a SMA disease course modifier.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Piepers S,van den Berg LH,Brugman F,Scheffer H,Ruiterkamp-Versteeg M,van Engelen BG,Faber CG,de Visser M,van der Pol WL,Wokke JHdoi
10.1007/s00415-008-0929-0subject
Has Abstractpub_date
2008-09-01 00:00:00pages
1400-4issue
9eissn
0340-5354issn
1432-1459journal_volume
255pub_type
杂志文章abstract:BACKGROUND:The frontal assessment battery (FAB) test is a composite tool for assessing executive functions related to the frontal lobe. Neuropsychological and blood-flow studies indicate distinct patterns of deterioration of anterior and posterior cortical function in Alzheimer's disease (AD) and subcortical vascular d...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0251-7
更新日期:2006-11-01 00:00:00
abstract::The various clinical features of multiple system atrophy (MSA) make the diagnosis of the disease difficult, especially in its early stages, when signs of differentiated neuroanatomical system involvement have not yet appeared. Mortality studies may be affected by the variability of the diagnostic criteria and selectio...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00868999
更新日期:1996-05-01 00:00:00
abstract::The relationship between atherosclerosis and cognitive function is less well studied in Chinese populations. In addition, the results among middle-aged adults have been mixed. We aimed to investigate the association of atherosclerosis measured by carotid intima-media thickness (CIMT) and cognitive function in middle-a...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8234-9
更新日期:2016-10-01 00:00:00
abstract::Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed as an outcome measure for treatment in a multi-centre study. NFT...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-014-7303-1
更新日期:2014-05-01 00:00:00
abstract::In paralytic shellfish poisoning a mollusc contaminated with a toxin (saxitoxin) causes a potentially lethal disease, clinically characterised by gastrointestinal and neurological symptoms, of which possible respiratory depression is the most serious. The toxin acts by blocking the sodium channels. We report 9 Portugu...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050241
更新日期:1998-08-01 00:00:00
abstract::Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6278-4
更新日期:2012-06-01 00:00:00
abstract::Migraine is a common debilitating neurological disease characterised by attacks of severe headache with or without preceding aura. Its aetiology remains elusive; however it is clear that an interplay of genetic and environmental components play an important role. Familial hemiplegic migraine (FHM) is a rare and severe...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-007-0641-5
更新日期:2007-12-01 00:00:00
abstract::Intrathecal synthesis of immunoglobulin G (IgG) specific to Treponema pallidum, ssp. pallidum, or to the human immunodeficiency virus 1 (HIV-1) was investigated in patients with contemporary treponemal and HIV-1 infections. Using a T. pallidum and an HIV-1 IgG enzyme-linked immunosorbent assay, specific antibody units...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314359
更新日期:1988-03-01 00:00:00
abstract::Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5471-1
更新日期:2010-07-01 00:00:00
abstract::Lipids were extracted from brains of a patient with membranous lipodystrophy (ML) and three normal patients and the neutral lipid and sphingolipid constituents were investigated. The storage of a large amount of free fatty acid was observed in the ML brain, but no cholesterol ester was found. Total lipid, cholesterol ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313947
更新日期:1979-03-22 00:00:00
abstract:BACKGROUND:The increase in disease-modifying drugs (DMDs) allows individualization of treatment in relapsing multiple sclerosis (RMS); however, the long-term impact of different treatment sequences is not well established. This is particularly relevant for MS patients who may need to postpone more aggressive DMD strate...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-019-09531-6
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:The epidemiology of paraneoplastic neurological syndromes (PNS) remains to be defined. We present here the first population-based incidence study and report the clinical spectrum and antibody profile of PNS in a large area in Northeastern Italy. METHODS:We performed a 9-year (2009-2017) population-based epi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09544-1
更新日期:2020-01-01 00:00:00
abstract::Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0546-3
更新日期:2007-10-01 00:00:00
abstract::Six patients with congenital myotonia and 4 patients with myotonic dystrophy have been examined clinically before and after the administration of N-propyl-ajmalin, an alkaloid frequently used as a cardiac antiarrhythmic drug. All patients but one reported a good to moderate improvement of their myotonic muscle stiffne...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00316381
更新日期:1975-09-01 00:00:00
abstract::The concentrations of glucose, pyruvate and lactate were determined in the blood and lumbar CSF of 63 patients with neuromuscular disorders and 40 controls. The glucose/lactate and lactate/pyruvate ratios were also calculated, in addition to the cytoplasmic NADH/NAD+ (nicotinamide-adenine dinucleotide-H/nicotinamide-a...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313438
更新日期:1981-01-01 00:00:00
abstract:BACKGROUND:Gastrointestinal (GI) dysfunction is prevalent in Parkinson's disease (PD). Symptoms are evident throughout the disease course, affect the length of the GI tract and impact on patient quality of life and management. We clarify real-life differences in the frequency and severity of GI symptoms in a cohort of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09723-5
更新日期:2020-05-01 00:00:00
abstract::The CHA(2)DS(2)-VASc score was developed to improve stroke risk stratification in atrial fibrillation (AF) patients. We sought to analyze the distribution and prognostic value of the CHA(2)DS(2)-VASc score in a cohort of ischemic stroke patients with AF. In total, 439 consecutive stroke patients with AF were studied. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6259-7
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Ultrafast brain MRI is required for uncooperative patients and time-critical diseases such as stroke because it reduces scan times and motion artifacts. This study investigated the clinical feasibility of a 1-min ultrafast brain MRI protocol for detecting intracranial abnormalities in restless and uncooperat...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9149-4
更新日期:2019-02-01 00:00:00
abstract::Normal pressure hydrocephalus (NPH) is characterised by gait disturbance, urinary incontinence and dementia. Even though dementia is a cardinal symptom of NPH, there is few data available concerning cognitive functioning. The aim of this observational case-control study was to evaluate the use of neuropsychological (N...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7489-2
更新日期:2014-12-01 00:00:00
abstract::Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten te...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-010-5880-1
更新日期:2011-06-01 00:00:00
abstract::Inherited neuropathies caused by mutations of the major structural protein of peripheral myelin, myelin protein zero (MPZ), contribute to 5% of all cases of Charcot-Marie-Tooth disease (CMT). They can be divided into an early-onset neuropathy with symptoms prior to the stage of walking, and a late-onset neuropathy wit...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5624-2
更新日期:2010-11-01 00:00:00
abstract::Apoptotic deletion of autoreactive T-cells is defective in patients with multiple sclerosis (MS). Glatiramer acetate (GA) treatment seems to restore apoptosis of detrimental T-cells. We analyzed the mitochondria membrane pro- (Bax) and anti-apoptotic (Bcl- 2) and cytosolic pro-apoptotic (Cyt-c, APAF-1) proteins expres...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0965-y
更新日期:2006-02-01 00:00:00
abstract::We performed the first population-based case-control study on clinical risk factors and drug exposure in Guillain-Barré syndrome (GBS). Sixty patients with GBS were collected through an incidence survey performed in the Emilia-Romagna region of northern Italy. GBS patients were compared with 109 hospital controls (HC)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050504
更新日期:1999-11-01 00:00:00
abstract::A girl with rapid-onset, bulbospinal muscular atrophy and deafness is described. The patient's mother and brother showed EMG features consistent with subclinical involvement. T is bulbospinal form of spinal muscular atrophy associated with deafness described by Vialetto and van Laere closely resembles the Madras type ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314095
更新日期:1987-08-01 00:00:00
abstract::Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). PRRT2 is a presynaptic protein which seems to play an importan...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-012-6777-y
更新日期:2013-05-01 00:00:00
abstract::Acquired copper deficiency has been recognised as a rare cause of anaemia and neutropenia for over half a century. Copper deficiency myelopathy (CDM) was only described within the last decade, and represents a treatable cause of non-compressive myelopathy which closely mimics subacute combined degeneration due to vita...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-010-5511-x
更新日期:2010-06-01 00:00:00
abstract::In order to identify the precise location of the primary motor area for the diaphragm with respect to the classical motor homunculus, functional magnetic resonance imaging (fMRI) experiments were performed utilizing independent component-cross correlation- sequential epoch (ICS) analysis on a high-field (3.0 Tesla) sy...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0413-4
更新日期:2004-06-01 00:00:00
abstract::Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) sh...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6176-9
更新日期:2012-02-01 00:00:00
abstract::A man, aged 63, had an illness which lasted 11 months from onset with pain under the left costal margin which radiated to the epigastrium, until his death from cardiac failure. His symptoms consisted principally of parasthesias and proximal weakness of both upper and lower extremities with atrophy of the shoulder and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314720
更新日期:1978-04-14 00:00:00
abstract::Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia occur, and as such might be prognostic of short survival. The purpose of this study was to investigate the prognostic value of a decreased TS, in addition to other pro...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6503-9
更新日期:2012-11-01 00:00:00