A Japanese boy with myalgia and cramps has a novel in-frame deletion of the dystrophin gene.

Abstract:

:We report a Japanese Becker muscular dystrophy (BMD) patient with occasional myalgia and cramps during normal activity that developed at the age of 28 months. His family history was negative for neuromuscular diseases. Muscle biopsy analyses, including dystrophin immunostaining, disclosed no clinically relevant findings. The diagnosis of BMD was initially made at the age of 10 years, when indications of persistent high serum levels of CK prompted us to screen deletions in the dystrophin gene by amplification of 19 deletion-prone exons from the genomic DNA by the polymerase chain reaction (PCR). Among the exons examined, exons 13 and 17 were deleted. To clarify the size of the deletion, the dystrophin transcript was analyzed by reverse transcription PCR. The determined nucleotide sequence of the amplified product encompassing exons 10 to 20 disclosed that the entire segment corresponding to exons 13 to 18 (810 bp) was absent, a deletion that would be expected to cause the production of a dystrophin protein lacking 270 amino acids from the rod domain. This result indicates that occasional myalgia and cramps could be early clinical manifestations of mild BMD, especially in patients who have a deletion in the rod domain, and that deletion screening of the dystrophin gene might be the only reliable method to diagnose such cases.

journal_name

Neurology

journal_title

Neurology

authors

Ishigaki C,Patria SY,Nishio H,Yabe M,Matsuo M

doi

10.1212/wnl.46.5.1347

subject

Has Abstract

pub_date

1996-05-01 00:00:00

pages

1347-50

issue

5

eissn

0028-3878

issn

1526-632X

journal_volume

46

pub_type

杂志文章
  • Nigral dysfunction in drug-induced parkinsonism: an 18F-dopa PET study.

    abstract::We studied 13 patients with severe drug-induced parkinsonism (DIP) using L-6-[18F]fluorodopa positron emission tomography (18F-dopa PET) to investigate the integrity of their dopaminergic nigrostriatal projections. Twelve of these patients were subsequently followed clinically for a median of 23.5 months (range, 6 to ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.3_part_1.552

    authors: Burn DJ,Brooks DJ

    更新日期:1993-03-01 00:00:00

  • Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.

    abstract::To study the incidence of abnormalities of the pyruvate (PDH) or ketoglutarate (KGDH) dehydrogenase complexes in patients with spinocerebellar degenerations, we measured the activities of PDH and KGDH in platelet-enriched preparations from the blood of 14 patients. Low PDH was found in 6 of the 14 patients; low KGDH w...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.1.126

    authors: Kark RA,Rodriguez-Budelli M

    更新日期:1979-01-01 00:00:00

  • Airborne rabies encephalitis: demonstration of rabies virus in the human central nervous system.

    abstract::A veterinarian contracted rabies in the course of laboratory work with homogenates of rabid goat brain. Epidemiologic study determined a respiratory mode of transmission. After a fulminant encephalitic illness, formed rabies virions were identified in the synaptic zones of the olfactory glomeruli. Identification, isol...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.27.1.67

    authors: Conomy JP,Leibovitz A,McCombs W,Stinson J

    更新日期:1977-01-01 00:00:00

  • Obstacles in the diagnosis and treatment of syphilitic amyotrophy.

    abstract::The authors describe a case of syphilitic amyotrophy in a 37-year-old man presenting with subacute progressive painless weakness in the right arm. Syphilitic amyotrophy is still an existing differential diagnosis of painless and progressive weakness. The authors explore potential obstacles in the diagnostic workup and...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000046584.72672.d3

    authors: Etgen T,Bischoff C,Resch M,Winbeck K,Conrad B,Sander D

    更新日期:2003-02-11 00:00:00

  • Dapsone motor neuropathy--an axonal disease.

    abstract::Dapsone produces a potentially reversible toxic neuropathy, with its primary effect on the soma and axons of motor neurons as opposed to myelin. There is very little evidence to suggest involvement of sensory axons in most cases; if present, it would appear minimal. A "dying back" of motor axons is postulated to produ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.26.6.514

    authors: Gutmann L,Martin JD,Welton W

    更新日期:1976-06-01 00:00:00

  • Muscle acid protease activity in amyotrophic lateral sclerosis: correlation with clinical and pathologic features.

    abstract::Acid protease activity was increased in skeletal muscle of patients with ALS. The highest levels of activity were found in individuals with the clinically and histologically most affected muscle. High levels of proteolytic activity correlated with the extent of muscle atrophy, the presence of target fibers and the ove...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.32.8.901

    authors: Antel JP,Chelmicka-Schorr E,Sportiello M,Stefansson K,Wollmann RL,Arnason BG

    更新日期:1982-08-01 00:00:00

  • Myelomalacia and hypoglycorrhachia in malignant atrophic papulosis.

    abstract::A 25-year-old man with the skin lesions of malignant atrophic papulosis had clinical and electrodiagnostic evidence of a multifocal asymmetric myelomalacia or polyradiculopathy in association with elevated CSF protein and hypoglycorrhachia. Autopsy findings included widespread infarctions and necrosis of brain, brains...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.33.7.936

    authors: Label LS,Tandan R,Albers JW

    更新日期:1983-07-01 00:00:00

  • Mild cognitive impairment, amnestic type: an epidemiologic study.

    abstract:OBJECTIVE:To estimate the prevalence and examine the course of mild cognitive impairment (MCI), amnestic type, using current criteria, within a representative community sample. METHODS:Retroactive application of MCI criteria to data collected during a prospective epidemiologic study was performed. The subjects were dr...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000132523.27540.81

    authors: Ganguli M,Dodge HH,Shen C,DeKosky ST

    更新日期:2004-07-13 00:00:00

  • Impairment of hand movements under visual guidance.

    abstract::Impairment of object-bound movements of the hand performed under visual guidance ("optic ataxia") was a prominent sign in a patient with bilateral circumscribed infarctions in the posterior watershed territory. The sign was interpreted as resulting from defective integration of panoramic visual information with propri...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.2.170

    authors: Damasio AR,Benton AL

    更新日期:1979-02-01 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

  • Significance of interictal bilateral temporal hypometabolism in temporal lobe epilepsy.

    abstract:OBJECTIVE:To assess the clinical implications and the pathophysiologic determinants of interictal bitemporal hypometabolism (BTH) in temporal lobe epilepsy (TLE) not associated with bilateral MRI abnormalities or intracranial space-occupying lesions. METHODS:The authors compared the clinical, interictal, and ictal EEG...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.54.9.1811

    authors: Koutroumanidis M,Hennessy MJ,Seed PT,Elwes RD,Jarosz J,Morris RG,Maisey MN,Binnie CD,Polkey CE

    更新日期:2000-05-09 00:00:00

  • Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor?

    abstract::An allele (263bp) of the nonamyloid component of plaques (NACP)-Repl polymorphism has shown association with sporadic PD in a German population. The authors studied this polymorphism in 100 American PD patients and 100 healthy controls. The authors also studied 46 essential tremor (ET) and 55 Huntington's disease (HD)...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.54.5.1195

    authors: Tan EK,Matsuura T,Nagamitsu S,Khajavi M,Jankovic J,Ashizawa T

    更新日期:2000-03-14 00:00:00

  • Sarcoid optic neuropathy.

    abstract::Three patients presented with unilateral progressive optic neuropathy. None of these patients had signs of symptoms referable to the chiasm or eye, thus confining their decline in vision to the optic nerve. Clinical and neuroradiographic evidence suggested a meningioma involving the optic nerve at the orbital-canalicu...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.32.6.597

    authors: Gudeman SK,Selhorst JB,Susac JO,Waybright EA

    更新日期:1982-06-01 00:00:00

  • Cost-effectiveness of HLA-B*1502 genotyping in adult patients with newly diagnosed epilepsy in Singapore.

    abstract:OBJECTIVE:Asians who carry the HLA-B*1502 allele have an elevated risk of developing Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) when treated with the antiepileptic drugs (AEDs) carbamazepine (CBZ) and phenytoin (PHT). With a focus on Singapore, this analysis identifies circumstances in which ge...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31826aac73

    authors: Dong D,Sung C,Finkelstein EA

    更新日期:2012-09-18 00:00:00

  • Specific antagonism of GABA-mediated postsynaptic inhibition in cultured mammalian spinal cord neurons: a common mode of convulsant action.

    abstract::Mammalian spinal neurons grown in tissue culture were used to study the effects of the four convulsants-penicillin, pentylenetetrazol, picrotoxin, and bicuculline-on these neurons' responses to amino acids. Bath application of all four convulsants produced paroxysmal depolarizing events in the neurons; iontophoresis o...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.28.4.325

    authors: Macdonald RL,Barker JL

    更新日期:1978-04-01 00:00:00

  • Determinants of the distribution and severity of hypoperfusion in patients with ischemic stroke.

    abstract:BACKGROUND:In acute cerebral ischemia, two variables characterize the extent of hypoperfusion: the volume of hypoperfused tissue and the intensity of hypoperfusion within these regions. We evaluated the determinants of the intensity of hypoperfusion within oligemic regions among patients who were eligible for recanaliz...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000335929.06390.d3

    authors: Bang OY,Saver JL,Alger JR,Starkman S,Ovbiagele B,Liebeskind DS,UCLA Collateral Investigators.

    更新日期:2008-11-25 00:00:00

  • A score that predicts 1-year functional status in patients with anti-NMDA receptor encephalitis.

    abstract:OBJECTIVE:To construct a grading score that predicts neurologic function 1 year after diagnosis of anti-NMDA receptor (NMDAR) encephalitis. METHODS:Three hundred eighty-two patients with detailed information and functional status at 1 year were studied. Factors associated with poor status (defined as modified Rankin S...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000006783

    authors: Balu R,McCracken L,Lancaster E,Graus F,Dalmau J,Titulaer MJ

    更新日期:2019-01-15 00:00:00

  • Functional MRI-BOLD of brainstem structures during visually triggered migraine.

    abstract:BACKGROUND:Previously, hyperoxia and blood volume increase were reported in the red nucleus and substantia nigra during spontaneous migraine with aura. OBJECTIVE:To further understand the pathophysiologic role of these centers, activation of brainstem structures was investigated in patients with visually triggered mig...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.59.1.72

    authors: Cao Y,Aurora SK,Nagesh V,Patel SC,Welch KM

    更新日期:2002-07-09 00:00:00

  • Behavioral assessment of peripheral nerve function.

    abstract::Behavioral psychophysical techniques were used to obtain strength-duration curves for the ulnar nerve at both threshold and suprathreshold levels. The functions well match those obtained with electrophysiologic procedures, but overcome many of the difficulities associated with traditional electrodiagnosis. An alternat...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.25.4.339

    authors: Rollman GB

    更新日期:1975-04-01 00:00:00

  • Axonal variant of Guillain-Barre syndrome associated with Campylobacter infection in Bangladesh.

    abstract:BACKGROUND:Campylobacter jejuni enteritis is the predominant bacterial infection preceding Guillain-Barré syndrome (GBS), an acute postinfectious immune-mediated polyradiculoneuropathy. The purpose of this study was to define the clinical phenotype of GBS and the relation with preceding C jejuni infections in Banglades...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181cff735

    authors: Islam Z,Jacobs BC,van Belkum A,Mohammad QD,Islam MB,Herbrink P,Diorditsa S,Luby SP,Talukder KA,Endtz HP

    更新日期:2010-02-16 00:00:00

  • Pontine anosognosia for hemiplegia.

    abstract::Four patients had anosognosia for hemiplegia (AHP) as a manifestation of pontine infarction in the mediolateral region. Patients with AHP syndrome had no mental and neuropsychologic disturbances, and all had involvement of the medial or lateral part of the pons (medial or lateral pontine reticular nuclei). Brainstem l...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.53.3.647

    authors: Evyapan D,Kumral E

    更新日期:1999-08-11 00:00:00

  • Survival in Alzheimer disease: a multiethnic, population-based study of incident cases.

    abstract:OBJECTIVE:To describe factors associated with survival in Alzheimer disease (AD) in a multiethnic, population-based longitudinal study. METHODS:AD cases were identified in the Washington Heights Inwood Columbia Aging Project, a longitudinal, community-based study of cognitive aging in Northern Manhattan. The sample co...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000334278.11022.42

    authors: Helzner EP,Scarmeas N,Cosentino S,Tang MX,Schupf N,Stern Y

    更新日期:2008-11-04 00:00:00

  • Clinical decision-making in functional and hyperkinetic movement disorders.

    abstract:OBJECTIVE:Functional or psychogenic movement disorders (FMD) present a diagnostic challenge. To diagnose FMD, clinicians must have experience with signs typical of FMD and distinguishing features from other hyperkinetic disorders. The aim of this study was to clarify the decision-making process of expert clinicians whi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000003479

    authors: van der Salm SM,van Rootselaar AF,Cath DC,de Haan RJ,Koelman JH,Tijssen MA

    更新日期:2017-01-10 00:00:00

  • Clinical characteristics of transient ischemic attacks in black patients.

    abstract::We analyzed the clinical, CT, and angiographic findings in 50 black patients with carotid transient ischemic attacks (TIAs). Thirty-two percent had TIAs lasting less than 1 hour, 26% had TIAs lasting 1 to 6 hours, and 42% had TIAs lasting 6 to 24 hours. Fifty-two percent of TIA patients had CT evidence of cerebral inf...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.41.9.1410

    authors: Weisberg LA

    更新日期:1991-09-01 00:00:00

  • The use of "clinic room" presentation as an educational tool in the ambulatory care setting.

    abstract:OBJECTIVE:To evaluate the utility of "clinic room" case presentation in the ambulatory care setting. BACKGROUND:Neurology is increasingly an outpatient specialty. The transition from ward to clinic presents challenges for student and resident education. Interaction between attending physician and trainee is limited by...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Smith AG,Bromberg MB,Singleton JR,Forshew DA

    更新日期:1999-01-15 00:00:00

  • Relative utility of 1H spectroscopic imaging and hippocampal volumetry in the lateralization of mesial temporal lobe epilepsy.

    abstract:OBJECTIVES:To determine the relative utility of 1H MRSI and hippocampal volumetry for the lateralization of mesial temporal lobe epilepsy (MTLE) in patients with intractable epilepsy. BACKGROUND:MTLE is the most common partial-onset seizure disorder in patients undergoing temporal lobe epilepsy surgery. MR volumetry a...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.51.1.66

    authors: Kuzniecky R,Hugg JW,Hetherington H,Butterworth E,Bilir E,Faught E,Gilliam F

    更新日期:1998-07-01 00:00:00

  • Evidence for a genetic predisposition for status epilepticus.

    abstract::The role of genetic factors in determining risk for status epilepticus (SE) was examined in twins identified using the population-based Virginia Twin Registry. Concordance rates for SE were 0.38 for monozygotic (MZ) and 0.00 for dizygotic (DZ) twins, with the rate in MZs being significantly increased over DZs. The pre...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.50.2.558

    authors: Corey LA,Pellock JM,Boggs JG,Miller LL,DeLorenzo RJ

    更新日期:1998-02-01 00:00:00

  • NK cell function in a patient with IgM monoclonal antibody against myelin-associated glycoprotein.

    abstract::Anti-Leu 7 antibody reacts with determinants on a subset of natural killer (NK) cells and myelin-associated glycoprotein (MAG). In a patient patient with peripheral neuropathy and IgM autoantibodies against MAG, we found the distribution and functions of NK cells to be normal. ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.4.566

    authors: Sriram S,Lanier L

    更新日期:1986-04-01 00:00:00

  • Calcification in brainstem gliomas.

    abstract::Calcification in brainstem gliomas is an unusual histologic and and radiologic finding. To date, radiologic evidence of calcification in these tumors has not been reported. The two patients described here had evidence of calcification on either computerized tomography (CT) or plain skull films. Increasing availability...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.28.8.832

    authors: Duffner PK,Klein DM,Cohen ME

    更新日期:1978-08-01 00:00:00

  • Aquaporin-4 and MOG autoantibody discovery in idiopathic transverse myelitis epidemiology.

    abstract:OBJECTIVE:Diagnostic criteria from 2002 classify transverse myelitis (TM) as idiopathic or disease associated but predate the discovery of aquaporin-4 (AQP4)-immunoglobulin G (IgG) and myelin oligodendrocyte glycoprotein (MOG)-IgG, which associate with TM. Prior incidence estimates of idiopathic TM (ITM) range from 1 t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000007828

    authors: Sechi E,Shosha E,Williams JP,Pittock SJ,Weinshenker BG,Keegan BM,Zalewski NL,Lopez-Chiriboga AS,Jitprapaikulsan J,Flanagan EP

    更新日期:2019-07-23 00:00:00