Abstract：
:We ascertained two families in Eastern Canada segregating a form of ataxia consistent with a recessive mode of inheritance. We performed a whole genome scan using dense SNP genotyping, and despite an absence of shared homozygosity in the families we defined linkage to a small region on chromosome 13. Direct DNA resequencing was employed to screen biologically relevant candidate genes in the interval, and two presumptive pathogenic mutations were found in the gene encoding sacsin. One variant is an obligate truncating mutation, the second is a missense variant in a highly conserved residue. Unexpectedly, one family was homozygous for the missense mutation, the other compound heterozygous for the two mutations. Our results expand the genotype phenotype correlation of mutations in the sacsin gene, and highlight the challenge of diagnosing genetically heterogeneous disorders on primarily clinical grounds. We demonstrate that whole genome genotyping on a modest scale can be productive in research, and potentially in a clinical context.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Guernsey DL,Dubé MP,Jiang H,Asselin G,Blowers S,Evans S,Ferguson M,Macgillivray C,Matsuoka M,Nightingale M,Rideout A,Delatycki M,Orr A,Ludman M,Dooley J,Riddell C,Samuels MEdoi
10.1016/j.jns.2009.09.034subject
Has Abstractpub_date
2010-01-15 00:00:00pages
79-87issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(09)00894-6journal_volume
288pub_type
杂志文章abstract：:Glioblastoma (GBM) is the most common primary malignant brain tumor in adults over 55years of age. The median age of diagnosis for patients with GBM is 64years old, with the incidence of patients between 75 and 85 increasing. The optimal treatment paradigm for elderly GBM patients continues to evolve due to the higher...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2017.07.048
更新日期：2017-09-15 00:00:00
abstract：:The gut microbiome is composed of an enormous number of microorganisms, generally regarded as commensal bacteria. Resident gut bacteria are an important contributor to health and significant evidence suggests that the presence of healthy and diverse gut microbiota is important for normal cognitive and emotional proces...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.03.027
更新日期：2019-05-15 00:00:00
abstract：BACKGROUND:Neuromyotonia (NMT) has been postulated to be an autoimmune channelopathy, probably by affecting voltage gated potassium channels (VGKC) leading to excitation and abnormal discharges [Sinha et al., Lancet 338 (1991) 75]. OBJECTIVE:To report three patients with NMT who had other associated immune-mediated co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00407-x
更新日期：2000-12-01 00:00:00
abstract：BACKGROUND:In clinical trials drop out bias reduces the validity of results. This is a particular problem in long-term multiple sclerosis (MS) studies, particularly when patients become progressively disabled and have increasing difficulty attending assessment clinics. OBJECTIVE:To assess the validity of nurse led tel...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2016.01.011
更新日期：2016-03-15 00:00:00
abstract：INTRODUCTION:Cerebral hyperperfusion syndrome (CHS) and intracranial hemorrhage (ICH) after carotid revascularization have been associated with significant morbidity and mortality, although pooled data comparing these outcomes between open and endovascular treatment are lacking. Aim of this meta-analysis is to compare ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2017.08.020
更新日期：2017-10-15 00:00:00
abstract：:Auditory vocal hallucinations are sometimes observed in temporal-lobe epilepsy, but are a frequent sign of psychosis and may rarely be mistaken for the latter. Here we report two patients who suffered from auditory vocal hallucinations, described as unintelligible human voices perceived at their left side during epile...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.029
更新日期：2011-06-15 00:00:00
abstract：:Administration of retinoic acid (RA) prevented the development of experimental allergic encephalomyelitis (EAE) in Lewis rats. RA suspended in corn oil was given for 3 days before the expected onset of the disease to rats immunized with myelin and to controls. The drug suppressed the neurological symptoms as well as t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90220-6
更新日期：1987-08-01 00:00:00
abstract：:Hemichorea associated with carotid artery occlusive disease is extremely rare. It has been recently suggested that carotid artery stenosis should be considered in the differential diagnosis of chorea, even in the absence of a preceding stroke or transient ischemic attack. Although the pathophysiology of this condition...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.068
更新日期：2011-01-15 00:00:00
abstract：:The activities of the two polyamine biosynthetic decarboxylases (PBD), L-ornithine decarboxylase (ODC) and S-adenosyl-L-methionine decarboxylase (SAMD), have been measured in quadriceps femoris of rats killed at different times after the induction of calciphylaxis- or serotonin(5-HT)-induced myopathy. Decreases in bot...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90004-x
更新日期：1989-01-01 00:00:00
abstract：:Amyotrophic Lateral Sclerosis (ALS) occurs more commonly in men than in women, and women get the disease later in life compared to men. This epidemiologic aspect of the disease raises the question as to whether estrogen may be neuroprotective in delaying or preventing ALS. Postmenopausal women with ALS were separated ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00234-8
更新日期：1999-10-31 00:00:00
abstract：:Based on the development of a transgenic animal model, an increasing number of experimental strategies have revealed the potential to modify the selective degeneration of motor neurons, a feature unique to motor neuron diseases such as amyotrophic lateral sclerosis (ALS). The translation of this success into therapeut...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(01)00628-1
更新日期：2001-10-15 00:00:00
abstract：OBJECTIVE:To describe the alterations of the cortical microcirculation of the brain (blood flow and vessel density) in TBI patients who and compare them with a control group. METHODS:Prospective and observational study in a third-level university hospital. Cortical microcirculation in the brain was directly observed u...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.03.044
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:Hypertensive (HT) patients are at higher risk of cognitive decline than normotensive individuals, because high blood pressure is a risk factor for mild cognitive deterioration. In this study cardio- and cerebrovascular reactivity along with cognitive performance was assessed on newly diagnosed HT patients. ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.07.022
更新日期：2010-12-15 00:00:00
abstract：:Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.01.008
更新日期：2007-03-15 00:00:00
abstract：:Hypereosinophilic syndrome represents a rare cause for cerebral infarctions and inflammatory neurological disorders. Various possible pathogenic mechanisms for cerebral infarctions have already been discussed. Complex mechanisms including a local hypercoagulability by eosinophilic granules as well as a direct damage t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.06.031
更新日期：2015-09-15 00:00:00
abstract：:The aim of the present study was to determine whether a cognitive decline, related to multiple sclerosis (MS), also involves deficits in semantic memory. Semantic memory function was evaluated by studying the conscious understanding of conceptual meanings. A group of MS patients with cognitive decline was presented wi...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(98)00314-1
更新日期：1999-01-15 00:00:00
abstract：BACKGROUND:Repeated administration of Paced Auditory Serial Addition Test (PASAT) results in a considerable learning effect in short- or long-term follow-up studies. However, the relationship between PASAT learning and changes in magnetic resonance imaging (MRI) parameters is yet to be investigated. OBJECTIVES:The aim...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.10.002
更新日期：2014-12-15 00:00:00
abstract：BACKGROUND AND PURPOSE:Post-conditioning with volatile anesthetics can create ischemic tolerance against cerebral ischemia-reperfusion injury. The present study was designed to determine whether delayed exposure to sevoflurane could induce ischemic tolerance and if this effect was dependent on increasing phosphorylated...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.12.011
更新日期：2015-01-15 00:00:00
abstract：:The diagnostic value of analogue frequency analysis of EMG from patients with neuromuscular disorders has not been convincing. Using fast Fourier transformation it is today possible to obtain the EMG power spectrum on-line and with a better resolution. We examined the power spectrum of the EMG pattern of the brachial ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90237-2
更新日期：1989-12-01 00:00:00
abstract：:To improve the understanding of neuronal cell swelling in cerebral ischemia, cell volume regulation, viability, intracellular electrolytes, and lactate production of Neuro-2A neuroblastoma cells were studied using an in vitro model. The volume regulatory capacity of Neuro-2A cells was assessed after incubation in hypo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：BACKGROUND:The pathogenesis of PD remains elusive. The renin-angiotensin-system (RAS) has recently been implicated in the degeneration of dopaminergic neurons. This study aimed to compare plasma levels of components of the RAS of individuals with PD with controls. We also investigated the association between these circ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.07.031
更新日期：2016-09-15 00:00:00
abstract：:Forty-seven spinal cords from subjects between 13 and 95 years of age have been examined; in the majority death occurred suddenly or rapidly from a state of previous good health. The limb motor neurons in the lumbospinal segments have been estimated by counting nucleoli in characeteristic cells in every fifth group of...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90069-7
更新日期：1977-11-01 00:00:00
abstract：OBJECTIVES:Though much information exists about the diagnosis, treatment, and epidemiology of myasthenia gravis (MG), a comprehensive data registry and biorepository is critical to better understand disease mechanisms, treatment outcomes, and the impact of treatment strategies. We aimed to design and implement the "Exp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116830
更新日期：2020-07-15 00:00:00
abstract：BACKGROUND:MS and psoriasis are both autoimmune diseases putatively mediated mainly by T cells. OBJECTIVE:We conducted a case control study to investigate whether patients with MS have a high rate of comorbid psoriasis. METHODS:The cohort consisted of 214 consecutive MS patients and a control group of 192 consecutive...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.01.003
更新日期：2014-03-15 00:00:00
abstract：:The histochemical ATPase fibre type pattern was examined in muscle biopsy samples obtained from patients with recessive myotonia, paramyotonia and from one patient with dominant myotonia. Absence (less than or equal to 5%) of 2B fibres was a genuine finding in the minority of the cases. In additional cases of recessiv...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90059-6
更新日期：1986-03-01 00:00:00
abstract：BACKGROUND:Vein of Galen aneurysmal malformations (VOGMs) are pial arteriovenous fistulas possessing Galenic venous drainage most commonly presenting during the neonatal period and infancy, with initial discovery during adulthood quite rare. OBJECTIVES AND METHODS:We conducted a literature survey of the PubMed databas...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117014
更新日期：2020-09-15 00:00:00
abstract：BACKGROUND:Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. The neck is among the most commonly affected regions, and diagnosis can be made readily through a simple clinical evaluation. The goal of this study was to explore how long it took patients to receive a diagnosi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.08.028
更新日期：2013-12-15 00:00:00
abstract：BACKGROUND:Headache burden is not adequately explored in Africa. Here, we measured weighted migraine prevalence from community-based studies in Africa. METHODS:PubMed search was employed using terms 'headache in Africa' AND/OR 'migraine in Africa' for published literature from 1970 until January 31, 2014. PRISMA was a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2014.04.019
更新日期：2014-07-15 00:00:00
abstract：:In this paper we review the findings of magnetic resonance imaging (MRI) in optic neuritis and visual dysfunction due to other optic neuropathies. With advances in MRI technology, it has become possible to visualise optic nerve pathology. STIR and RARE sequences, contrast-enhanced sequences, and phased array surface c...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(99)00272-5
更新日期：2000-01-15 00:00:00
abstract：:Epidemiological and clinical studies have shown that environmental factors such as infections, smoking and vitamin D are associated with the risk of developing multiple sclerosis (MS). Some of these factors also play a role in the MS disease course. We are currently beginning to understand how environmental factors ma...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2012.10.021
更新日期：2013-01-15 00:00:00
