Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.

Abstract:

:We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia. Nine affected male family members had high resting serum levels of creatine kinase, and well-developed musculature with calf hypertrophy but no evidence of muscular weakness. Symptoms began in childhood and did not progress. Electromyographic findings were consistent with myopathy while muscle biopsies showed nonspecific myopathic changes without evidence of storage of glycogen or lipid. Analysis of DNA revealed a deletion in the 1st third of the dystrophin gene. Western blot analysis revealed that dystrophin was smaller than that in normal samples, with no reduction in the amount of the protein present. This disorder represents a new clinical phenotype associated with a deletion in the dystrophin gene. This deletion affects a portion of the dystrophin molecule that clinically does not appear to significantly alter its function. Other patients with deletions in this region may have truncated dystrophin without clinical signs of progressive muscle disease.

journal_name

Neurology

journal_title

Neurology

authors

Gospe SM Jr,Lazaro RP,Lava NS,Grootscholten PM,Scott MO,Fischbeck KH

doi

10.1212/wnl.39.10.1277

subject

Has Abstract

pub_date

1989-10-01 00:00:00

pages

1277-80

issue

10

eissn

0028-3878

issn

1526-632X

journal_volume

39

pub_type

杂志文章
  • Metabolism of (-) deprenyl to amphetamine and methamphetamine may be responsible for deprenyl's therapeutic benefit: a biochemical assessment.

    abstract::The urinary excretion of some important phenylethylamines, catecholamines, their metabolites, amphetamine, and methamphetamine were measured in parkinsonian patients on Sinemet (L-dopa plus carbidopa, a peripheral dopadecarboxylase inhibitor) and depressed patients after chronic (-) deprenyl treatment. Deprenyl was ef...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.32.5.503

    authors: Karoum F,Chuang LW,Eisler T,Calne DB,Liebowitz MR,Quitkin FM,Klein DF,Wyatt RJ

    更新日期:1982-05-01 00:00:00

  • Regional and progressive thinning of the cortical ribbon in Huntington's disease.

    abstract:BACKGROUND:Huntington's disease (HD) is a fatal and progressive neurodegenerative disease that is accompanied by involuntary movements, cognitive dysfunction, and psychiatric symptoms. Although progressive striatal degeneration is known to occur, little is known about how the disease affects the cortex, including which...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.58.5.695

    authors: Rosas HD,Liu AK,Hersch S,Glessner M,Ferrante RJ,Salat DH,van der Kouwe A,Jenkins BG,Dale AM,Fischl B

    更新日期:2002-03-12 00:00:00

  • PCV chemotherapy for recurrent glioblastoma multiforme.

    abstract::The authors evaluated response, time to progression (TTP), survival, prognostic factors, and toxicity in 63 patients with a recurrent glioblastoma multiforme treated with procarbazine, lomustine, and vincristine (PCV) chemotherapy. Complete and partial response was observed in two (3%) and five patients (8%). In 16 pa...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/wnl.56.1.118

    authors: Kappelle AC,Postma TJ,Taphoorn MJ,Groeneveld GJ,van den Bent MJ,van Groeningen CJ,Zonnenberg BA,Sneeuw KC,Heimans JJ

    更新日期:2001-01-09 00:00:00

  • Serum triglycerides in Alzheimer disease: Relation to neuroimaging and CSF biomarkers.

    abstract:OBJECTIVE:To investigate the association of triglyceride (TG) principal component scores with Alzheimer disease (AD) and the amyloid, tau, neurodegeneration, and cerebrovascular disease (A/T/N/V) biomarkers for AD. METHODS:Serum levels of 84 TG species were measured with untargeted lipid profiling of 689 participants ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000009436

    authors: Bernath MM,Bhattacharyya S,Nho K,Barupal DK,Fiehn O,Baillie R,Risacher SL,Arnold M,Jacobson T,Trojanowski JQ,Shaw LM,Weiner MW,Doraiswamy PM,Kaddurah-Daouk R,Saykin AJ,Alzheimer's Disease Neuroimaging Initiative and Alzheim

    更新日期:2020-05-19 00:00:00

  • Computerized tomography in demyelinating disease of the young.

    abstract::We have used computerized tomography (CT) to look for evidence of cerebral demyelination in children with progressive neurologic disorders. Fourteen patients with a clinical diagnosis of a demyelinating disorder were examined by CT, and five had CT findings suggesting cerebral demyelination. In two patients with a so-...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.27.9.838

    authors: Robertson WC Jr,Gomez MR,Reese DF,Okazaki H

    更新日期:1977-09-01 00:00:00

  • Comorbidity is associated with disease activity in MS: Findings from the CombiRx trial.

    abstract:OBJECTIVE:To determine whether comorbidity is associated with clinical (relapses, disability worsening) and MRI outcomes in multiple sclerosis (MS) by conducting a secondary analysis of the CombiRx clinical trial. METHODS:CombiRx compared interferon beta-1a, glatiramer acetate, and the combination of these agents. For...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/WNL.0000000000010024

    authors: Salter A,Kowalec K,Fitzgerald KC,Cutter G,Marrie RA

    更新日期:2020-08-04 00:00:00

  • Familial band heterotopias simulating tuberous sclerosis.

    abstract::We report the clinical and neuroimaging findings of a mother and daughter with seizure disorders and band heterotopias seen on magnetic resonance imaging studies. These clinicoradiologic findings simulate those for a diagnosis of tuberous sclerosis complex. Clinicians should be aware of this migrational anomaly and it...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.7.1424

    authors: DiMario FJ Jr,Cobb RJ,Ramsby GR,Leicher C

    更新日期:1993-07-01 00:00:00

  • Assessment of hand function in a patient with chronic sensory demyelinating neuropathy.

    abstract::A 60-year-old man presented with progressive large fiber sensory loss in the right first three fingers and, to a lesser extent, in both fourth and fifth fingers. Electrophysiologic studies were characteristic of chronic sensory demyelinating polyneuropathy, a variant of chronic inflammatory demyelinating polyneuropath...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.49.1.253

    authors: Thonnard JL,Detrembleur C,Van den Bergh PY

    更新日期:1997-07-01 00:00:00

  • Progressive supranuclear palsy: loss of choline-acetyltransferase-like immunoreactive neurons in the pontine reticular formation.

    abstract::We performed a quantitative immunocytochemical study using a polyclonal antibody directed against choline acetyltransferase (ChAT) in the lower pontine reticular formation in four control subjects and three patients with progressive supranuclear palsy (PSP). In the normal brains, there was detectable ChAT-like immunor...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.41.10.1593

    authors: Malessa S,Hirsch EC,Cervera P,Javoy-Agid F,Duyckaerts C,Hauw JJ,Agid Y

    更新日期:1991-10-01 00:00:00

  • The cognitive profile of posterior cortical atrophy.

    abstract:BACKGROUND:Posterior cortical atrophy (PCA) is a progressive dementia characterized by prominent disorders of higher visual processing, affecting both dorsal and ventral streams to cause Balint's syndrome, alexia, and visual agnosia. OBJECTIVE:To define the cognitive profile of PCA and compare to the typical, primary ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000196477.78548.db

    authors: McMonagle P,Deering F,Berliner Y,Kertesz A

    更新日期:2006-02-14 00:00:00

  • Familial hemiplegic migraine versus migraine with prolonged aura: an uncertain diagnosis in a family report.

    abstract::Four of five members of a family complained of repeated attacks of hemiplegic migraine, migraine with aura of different types, or migraine without aura. The hemiplegia always outlasted the headache and was often accompanied by altered consciousness, aphasia, and, in one patient, coma; in this latter patient, the ictal...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.45.1.33

    authors: Marchioni E,Galimberti CA,Soragna D,Ferrandi D,Maurelli M,Ratti MT,Bo P,Montalbetti L,Albergati A,Savoldi F

    更新日期:1995-01-01 00:00:00

  • Calcification of the basal ganglia as a cause of levodopa-resistant parkinsonism.

    abstract::We present a patient with levodopa-resistant parkinsonism due to basal ganglia calcification related to surgically-induced hypoparathyroidism. The calcification was seen on computerized axial tomography but not on skull x-rays. Such calcification should be looked for in all cases of levodopa-resistant parkinsonism, si...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.26.3.221

    authors: Klawans HL,Lupton M,Simon L

    更新日期:1976-03-01 00:00:00

  • Effect of artificial pancreas treatment on peripheral nerve function in diabetes.

    abstract::To determine whether the complete correction of hyperglycemia of diabetes can rapidly improve abnormal peripheral nerve function, eight hyperglycemic insulin-requiring diabetics underwent 3 days of glucose control with an artificial endocrine pancreas, the BIOSTATOR Glucose Controller. Comparison of neurologic assessm...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/wnl.31.11.1375

    authors: Service FJ,Daube JR,O'Brien PC,Dyck PJ

    更新日期:1981-11-01 00:00:00

  • Localization of callosal auditory pathways: a CT case study.

    abstract::The position of the auditory pathways in the human corpus callosum has not been defined by modern imaging techniques. We report a case with a discrete hemorrhagic lesion in the posterior body of the corpus callosum. The only signs of disturbed callosal function were limited to the auditory system--suppression of left ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.5.802

    authors: Alexander MP,Warren RL

    更新日期:1988-05-01 00:00:00

  • Late-onset anti-NMDA receptor encephalitis.

    abstract:OBJECTIVE:To describe the clinical features and outcome of anti-NMDA receptor (NMDAR) encephalitis in patients ≥45 years old. METHOD:Observational cohort study. RESULTS:In a cohort of 661 patients with anti-NMDAR encephalitis, we identified 31 patients ≥45 years old. Compared with younger adults (18-44 years), older ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3182a4a49c

    authors: Titulaer MJ,McCracken L,Gabilondo I,Iizuka T,Kawachi I,Bataller L,Torrents A,Rosenfeld MR,Balice-Gordon R,Graus F,Dalmau J

    更新日期:2013-09-17 00:00:00

  • HLA-linked complement markers in Alzheimer's and Parkinson's disease: C4 variant (C4B2) a possible marker for senile dementia of the Alzheimer type.

    abstract::We determined the gene frequencies for the alleles of the HLA-linked complement markers C2, properdin factor B (BF), C4A (Rodgers) and C4B (Chido), and the red cell enzyme glyoxalase-I in 38 unrelated patients with senile dementia of the Alzheimer type, 42 patients with idiopathic Parkinson's disease, and 59 unaffecte...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.34.3.310

    authors: Nerl C,Mayeux R,O'Neill GJ

    更新日期:1984-03-01 00:00:00

  • Leukoencephalopathy induced by levamisole alone for the treatment of recurrent aphthous ulcers.

    abstract::We report imaging and clinical findings of leukoencephalopathy occurring after levamisole. The lesions were hypoattenuating on CT and appeared as multifocal oval or elliptical foci in the white matter or along the subependymal veins on MRI. Most lesions resolve after prompt withdrawal of levamisole. Detailed history t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000237344.06122.79

    authors: Liu HM,Hsieh WJ,Yang CC,Wu VC,Wu KD

    更新日期:2006-09-26 00:00:00

  • Neuroimaging correlates of subjective memory deficits in a community population.

    abstract:BACKGROUND:Subjective memory deficit (SMD) is one of few potential presenting symptoms for people with early cognitive impairment. However, associations with underlying brain changes are unclear. METHODS:In a community sample of 1,779 people without dementia, and with neuroimaging (MRI) data, associations were investi...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/01.wnl.0000310982.99438.54

    authors: Stewart R,Dufouil C,Godin O,Ritchie K,Maillard P,Delcroix N,Crivello F,Mazoyer B,Tzourio C

    更新日期:2008-04-29 00:00:00

  • Physical activity, but not body mass index, predicts less disability before and after stroke.

    abstract:OBJECTIVE:To determine whether physical activity and body mass index (BMI) predict instrumental or basic activities of daily living (I/ADL) trajectories before or after stroke compared to individuals who remained stroke-free. METHODS:Using a prospective cohort, the Health and Retirement Study, we followed adults witho...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000003888

    authors: Rist PM,Capistrant BD,Mayeda ER,Liu SY,Glymour MM

    更新日期:2017-05-02 00:00:00

  • Preservation of branchimotor neurons of the nucleus ambiguus in multiple system atrophy.

    abstract::Cholinergic neurons in the nucleus ambiguus (NA) were counted in autopsy tissue obtained from five patients with multiple system atrophy (MSA), four patients with PD, and five controls. The number of neurons in the dorsal NA was not significantly different among the three groups. Neurons in the ventrolateral portion o...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000042087.07133.87

    authors: Benarroch EE,Schmeichel AM,Parisi JE

    更新日期:2003-01-14 00:00:00

  • Child neurology: diagnosis of Lambert-Eaton myasthenic syndrome in children.

    abstract:OBJECTIVE:To report a case of Lambert-Eaton myasthenic syndrome (LEMS) in a child and review the existing literature of LEMS in children. METHODS:We report a pediatric case of LEMS with the classic clinical triad of proximal weakness, autonomic dysfunction, and areflexia; the characteristic increment in compound motor...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/WNL.0b013e318293e14e

    authors: Morgan-Followell B,de Los Reyes E

    更新日期:2013-05-21 00:00:00

  • Alexia without agraphia associated with spleniogeniculate infarction.

    abstract::Pure alexia, following an infarction in the distribution of the left posterior cerebral artery, is attributed to damage of the left occipital lobe and the splenium of the corpus callosum. We describe a case of pure alexia in a 57-year-old woman with infarction of the left lateral geniculate body and the splenium of th...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.41.4.587

    authors: Stommel EW,Friedman RJ,Reeves AG

    更新日期:1991-04-01 00:00:00

  • West Nile virus infection presenting as acute flaccid paralysis in an HIV-infected patient: a case report and review of the literature.

    abstract::We describe a case of West Nile virus (WNV) infection in an HIV-infected patient who presented with an isolated flaccid monoparesis of the right upper extremity. To our knowledge, this is the first reported case of flaccid paralysis caused by WNV infection in an HIV-infected patient. We then review the medical literat...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/01.wnl.0000253223.07720.bb

    authors: Torno M,Vollmer M,Beck CK

    更新日期:2007-02-13 00:00:00

  • Characterization of patients with longstanding idiopathic REM sleep behavior disorder.

    abstract:OBJECTIVE:To evaluate the presence of prodromal markers of Parkinson disease (PD) in patients with longstanding idiopathic REM sleep behavior disorder (IRBD), a small subgroup of individuals with IRBD with long-term follow-up thought not to be at risk of developing PD. METHODS:Demographic, clinical, and neuroimaging m...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004121

    authors: Iranzo A,Stefani A,Serradell M,Martí MJ,Lomeña F,Mahlknecht P,Stockner H,Gaig C,Fernández-Arcos A,Poewe W,Tolosa E,Högl B,Santamaria J,SINBAR (Sleep Innsbruck Barcelona) group.

    更新日期:2017-07-18 00:00:00

  • Comparison of Phenotypic Characteristics and Prognosis Between Black and White Patients in a Tertiary ALS Clinic.

    abstract:OBJECTIVE:To compare characteristics between Black and White patients with amyotrophic lateral sclerosis (ALS) in order to identify disparities and phenotypic variability. METHODS:We performed database review for patients seen between 1997 and 2020 at the Emory ALS Center in Atlanta, Georgia. Patients with ALS were in...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000011396

    authors: Brand D,Polak M,Glass JD,Fournier CN

    更新日期:2020-12-28 00:00:00

  • Tobacco smoking and the risk of Parkinson disease: A 65-year follow-up of 30,000 male British doctors.

    abstract:OBJECTIVE:To investigate the causal relevance of current tobacco smoking for the risk of Parkinson disease (PD). METHODS:We compared the risks of death from PD with smoking habits in 30,000 male doctors in the British Doctors cohort study in 1951 and in survivors who had been resurveyed periodically for 5 decades. Cau...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000009437

    authors: Mappin-Kasirer B,Pan H,Lewington S,Kizza J,Gray R,Clarke R,Peto R

    更新日期:2020-05-19 00:00:00

  • A preliminary MRI study of the geometry of brain displacement and level of consciousness with acute intracranial masses.

    abstract::We determined the horizontal and vertical components of brain displacement on coronal MRIs in 10 patients with acute supratentorial masses. The vertical distances from the superior sagittal sinus to the pontomesencephalic junction (PMJ) and from the vertical midline of the brain to the PMJ did not differ from measurem...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.5.622

    authors: Ropper AH

    更新日期:1989-05-01 00:00:00

  • Oligodendrocyte-binding antibodies in multiple sclerosis: 125I-protein A studies.

    abstract::Sera from patients with multiple sclerosis (MS), patients with neurologic diseases other than MS, controls (adult and newborn), and rabbits immunized with bovine oligodendrocytes were assayed for antioligodendrocyte antibodies by a binding test with 125I-protein A. The mean binding of 125I-protein A to oligodendrocyte...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.30.5.540

    authors: Steck AJ,Regli F

    更新日期:1980-05-01 00:00:00

  • Practice parameter update: management issues for women with epilepsy--focus on pregnancy (an evidence-based review): vitamin K, folic acid, blood levels, and breastfeeding: report of the Quality Standards Subcommittee and Therapeutics and Technology Asses

    abstract:OBJECTIVE:To reassess the evidence for management issues related to the care of women with epilepsy (WWE) during pregnancy, including preconceptional folic acid use, prenatal vitamin K use, risk of hemorrhagic disease of the newborn, clinical implications of placental and breast milk transfer of antiepileptic drugs (AE...

    journal_title:Neurology

    pub_type: 杂志文章,实务指引,评审

    doi:10.1212/WNL.0b013e3181a6b325

    authors: Harden CL,Pennell PB,Koppel BS,Hovinga CA,Gidal B,Meador KJ,Hopp J,Ting TY,Hauser WA,Thurman D,Kaplan PW,Robinson JN,French JA,Wiebe S,Wilner AN,Vazquez B,Holmes L,Krumholz A,Finnell R,Shafer PO,Le Guen C,Americ

    更新日期:2009-07-14 00:00:00

  • Motor activation in multiple system atrophy and Parkinson disease: a PET study.

    abstract:BACKGROUND:Multiple system atrophy (MSA) is an atypical parkinsonian syndrome including cerebellar impairment and poor response to levodopa. We assessed right hand motor activation in patients with MSA before and after an acute levodopa challenge in comparison with patients with PD and healthy volunteers (HVs). METHOD...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181f4d78f

    authors: Payoux P,Brefel-Courbon C,Ory-Magne F,Regragui W,Thalamas C,Balduyck S,Durif F,Azulay JP,Tison F,Blin O,Esquerre JP,Rascol O

    更新日期:2010-09-28 00:00:00