当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure.

A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure.

Abstract：

:A family with adult spinal and bulbar muscular atrophy with X-linked recessive inheritance (Kennedy's disease) is described. Affected members presented at age 20 with muscle cramps followed insidiously by gynaecomastia, partial loss of secondary sexual traits, loss of libido and inability to maintain an erection. Three had also testicular atrophy and severe oligospermia was found in two patients. Testicular biopsy in one case showed germinal failure with almost normal Leydig cells. Hormonal tests were suggestive of a primary testicular failure. Etiologic possibilities are considered.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Arbizu T,Santamaría J,Gomez JM,Quílez A,Serra JP

doi

10.1016/0022-510x(83)90022-9

subject

Has Abstract

pub_date

1983-06-01 00:00:00

pages

371-82

issue

3

eissn

0022-510X

issn

1878-5883

pii

0022-510X(83)90022-9

journal_volume

59

pub_type

杂志文章

相关文献

JOURNAL OF THE NEUROLOGICAL SCIENCES文献大全
  • Myositis caused by Borrelia burgdorferi: report of four cases.

    abstract：:Myositis was proven histopathologically in 4 patients (age range 36-66 years) who suffered from early or late stages of Borrelia burgdorferi infection. Muscle weakness was present in 3 patients, 1 complaining of additional myalgias. One man came to medical attention because of skin discoloration and swelling of one le...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(89)90089-0

    authors： Reimers CD,Pongratz DE,Neubert U,Pilz A,Hübner G,Naegele M,Wilske B,Duray PH,de Koning J

    更新日期：1989-06-01 00:00:00

  • Central and peripheral SEP defects in neurologically symptomatic and asymptomatic subjects with low vitamin B12 levels.

    abstract：:Somatosensory evoked potentials (SEPs) following median nerve stimulation were abnormal in 7 patients with sensory impairment due to vitamin B12 deficiency. Extensor plantar reflexes indicated a central sensory pathway lesion in 4 cases and absent tendon jerks suggested peripheral neuropathy in 4, but median nerve SEP...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(87)90006-2

    authors： Jones SJ,Yu YL,Rudge P,Kriss A,Gilois C,Hirani N,Nijhawan R,Norman P,Will R

    更新日期：1987-12-01 00:00:00

  • Follow-on products for treatment of multiple sclerosis in Latin America: An update.

    abstract：:Both proprietary and non-proprietary medicines are expected to undergo rigorous pre-approval testing and both should meet stringent health authority regulatory requirements related to quality to obtain approval. Non-proprietary (also known as copy or generic) medicines, which base their authorization and use on the pr...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2017.08.3242

    authors： Correale J

    更新日期：2017-10-15 00:00:00

  • Peripheral levels of angiotensins are associated with depressive symptoms in Parkinson's disease.

    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

    authors： Rocha NP,Scalzo PL,Barbosa IG,de Campos-Carli SM,Tavares LD,de Souza MS,Christo PP,Reis HJ,Simões E Silva AC,Teixeira AL

    更新日期：2016-09-15 00:00:00

  • Characteristics of intracranial branch atheromatous disease and its association with progressive motor deficits.

    abstract：BACKGROUND:Small deep brain infarcts are often caused by two different vascular pathologies: 1. atheromatous occlusion at the orifice of large caliber penetrating arteries termed branch atheromatous disease (BAD) and 2. lipohyalinotic degenerative changes termed lipohyalinotic degeneration (LD). We herein analyze and d...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.02.006

    authors： Yamamoto Y,Ohara T,Hamanaka M,Hosomi A,Tamura A,Akiguchi I

    更新日期：2011-05-15 00:00:00

  • Circulating plasma factors in Parkinson's disease enhance nitric oxide release of normal human neutrophils.

    abstract：:Nitric oxide (*NO)-mediated toxicity has been involved in neurodegenerative diseases, including Parkinson's disease (PD). We have recently reported an increase of about 50% in *NO production rate in PMA-activated polymorphonuclear leukocytes (PMN) from either newly diagnosed or chronically treated PD patients. As humo...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(99)00079-9

    authors： Gatto EM,Riobó NA,Carreras MC,Schöpfer FJ,Pargament GA,Poderoso JJ

    更新日期：1999-05-01 00:00:00

  • Immunologic derangement in myotonic dystrophy--abnormal contact sensitization to dinitrochlorobenzene.

    abstract：:A broad spectrum of immunologic parameters was investigated in 13 cases of myotonic muscular dystrophy (MyD), including those for cellular immunity which has attracted little attention in the past. One was a 46-year-old woman having both MyD and a thymoma. This association between MyD and thymoma is probably coinciden...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(80)90007-6

    authors： Kuroiwa Y,Sugita H,Toyokura Y,Mizoguchi M,Matsuo H,Nonaka Y

    更新日期：1980-08-01 00:00:00

  • Tissue plasminogen activator for the treatment of intraventricular hematoma: the dose-effect relationship.

    abstract：:In this study, we investigated the dose-effect relationship and safety of tissue plasminogen activator (tPA) for the treatment of intraventricular hemorrhage/hematoma (IVH) in rats. Adult male Sprague-Dawley rats were injected with autologous blood into the left lateral ventricle to establish IVH. Two hours later, Rin...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/s0022-510x(02)00243-5

    authors： Wang YC,Lin CW,Shen CC,Lai SC,Kuo JS

    更新日期：2002-10-15 00:00:00

  • Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

    abstract：BACKGROUND:Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2017.10.010

    authors： Burguez D,Polese-Bonatto M,Scudeiro LAJ,Björkhem I,Schöls L,Jardim LB,Matte U,Saraiva-Pereira ML,Siebert M,Saute JAM

    更新日期：2017-12-15 00:00:00

  • Linear lesions may assist early diagnosis of neuromyelitis optica and longitudinally extensive transverse myelitis, two subtypes of NMOSD.

    abstract：PURPOSE:To investigate the relationship between linear lesions (LL) and the development of longitudinally extensive spinal cord lesions (LESCL) in Chinese patients with neuromyelitis optica or longitudinally extensive transverse myelitis. METHOD:The clinical records of 143 patients with these conditions were reviewed....

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.11.040

    authors： Cai W,Tan S,Zhang L,Shan Y,Wang Y,Lin Y,Zhou F,Zhang B,Chen X,Zhou L,Wang Y,Huang X,Men X,Li H,Qiu W,Hu X,Lu Z

    更新日期：2016-01-15 00:00:00

  • A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.

    abstract：:Benign familial neonatal convulsions (BFNC) are a rare autosomal dominant inherited epilepsy syndrome. Two voltage-gated potassium channel genes, KCNQ2 on chromosome 20q13.3 and KCNQ3 on chromosome 8q24, have been identified as the genes responsible for benign familial neonatal convulsions. By linkage analysis and mut...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2004.03.001

    authors： Tang B,Li H,Xia K,Jiang H,Pan Q,Shen L,Long Z,Zhao G,Cai F

    更新日期：2004-06-15 00:00:00

  • Cingulate infarction: A neuropsychological and neuroimaging study.

    abstract：BACKGROUND AND PURPOSE:Ischemic lesions rarely affect the cingulate cortex (CC) in isolation, restricting human lesion/behavioural change correlational analysis. The aim of this study was to determine clinical, neuropsychological and neuroimaging features of isolated cingulate infarcts. METHODS:We studied, 3800 patien...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2019.04.033

    authors： Kumral E,Erdoğan CE,Bayam FE,Arslan H

    更新日期：2019-07-15 00:00:00

  • Memantine abrogates neurological deficits, but not CNS inflammation, in Lewis rat experimental autoimmune encephalomyelitis.

    abstract：:Memantine, a clinically employed drug with N-methyl-D-aspartate (NMDA) receptor antagonistic effects, dose-dependently ameliorates neurological deficits in Lewis rat experimental autoimmune encephalomyelitis (EAE). Interestingly, this therapeutic effect was not due to dampened CNS inflammation, as assessed by immunohi...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(95)00339-4

    authors： Wallström E,Diener P,Ljungdahl A,Khademi M,Nilsson CG,Olsson T

    更新日期：1996-05-01 00:00:00

  • Parkinson's disease and arithmetics: the role of executive functions.

    abstract：:Brain imaging studies as well as neuropsychological case studies suggest an important role for basal ganglia in arithmetic processing. Aim of this study was to assess possible numerical deficits in PD and functional relations between numerical and other cognitive deficits. Fifteen non-demented patients with early PD (...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2006.05.037

    authors： Zamarian L,Visani P,Delazer M,Seppi K,Mair KJ,Diem A,Poewe W,Benke T

    更新日期：2006-10-25 00:00:00

  • Is there a maturation defect related to calcium in muscle mitochondria from dystrophic mice and Duchenne and Becker muscular dystrophy patients.

    abstract：:In our study, mitochondria were isolated from skeletal muscle in 2-, 3-, 4-, 6-, 8-, and 12-week-old normal (C57BL6j dy/+), and 4-, 8-, and 12-week-old dystrophic (C57BL6j dy/dy) mice and in normal subjects and patients with Duchenne or Becker muscular dystrophy. A deficit was observed in a calcium-specific mitochondr...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(89)90116-0

    authors： Lucas-Héron B,Mussini JM,Ollivier B

    更新日期：1989-05-01 00:00:00

  • Nurse led telephone assessment of expanded disability status scale assessment in MS patients at high levels of disability.

    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

    authors： Huda S,Cavey A,Izat A,Mattison P,Boggild M,Palace J

    更新日期：2016-03-15 00:00:00

  • Greater intraprocedural systolic blood pressure and blood pressure variability are associated with contrast-induced neurotoxicity after neurointerventional procedures.

    abstract：BACKGROUND:Contrast-induced neurotoxicity (CIN) is a rare complication of neurointerventional procedures and its understanding remains limited. We evaluated the association of CIN with systemic hemodynamics in patients undergoing neuroendovascular interventions. METHODS:We conducted a 1:2 matched case-control study fr...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2020.117209

    authors： Zevallos CB,Dai B,Dandapat S,Quispe-Orozco D,Holcombe A,Ansari S,Farooqui M,Derdeyn CP,Samaniego EA,Ortega-Gutierrez S

    更新日期：2021-01-15 00:00:00

  • Absence of cerebrospinal fluid oligoclonal bands is associated with delayed disability progression in relapsing-remitting MS patients treated with interferon-beta.

    abstract：:To assess the role of CSF oligoclonal bands (OB) in determining the clinical outcome in patients with relapsing-remitting multiple sclerosis (RRMS) treated with IFN-beta, we carried out a retrospective, multicentre, observational study recruiting 209 RRMS patients from six MS centres from northern, central and souther...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.jns.2006.01.004

    authors： Annunziata P,Giorgio A,De Santi L,Zipoli V,Portaccio E,Amato MP,Clerici R,Scarpini E,Moscato G,Iudice A,Vacca G,Orefice G,Morra VB,Maimone D

    更新日期：2006-05-15 00:00:00

  • Alpha-tocopherol and beta-carotene do not protect marmosets against the dopaminergic neurotoxicity of N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine.

    abstract：:Idiopathic Parkinson's disease (PD) may possibly be caused by one or more unidentified neurotoxins present in the environment, or formed endogenously, which progressively damage dopaminergic nigrostriatal neurons. N-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) is an experimental neurotoxin which produces biochemi...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(87)90106-7

    authors： Perry TL,Yong VW,Hansen S,Jones K,Bergeron C,Foulks JG,Wright JM

    更新日期：1987-11-01 00:00:00

  • Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype.

    abstract：:We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examined neurologically and functionally and underwent Manual Muscle Testin...

    journal_title：Journal of the neurological sciences

    pub_type： 临床试验,杂志文章

    doi：10.1016/0022-510x(95)00147-t

    authors： Morandi L,Mora M,Confalonieri V,Barresi R,Di Blasi C,Brugnoni R,Bernasconi P,Mantegazza R,Dworzak F,Antozzi C

    更新日期：1995-10-01 00:00:00

  • Short-term motor improvement after sub-threshold 5-Hz repetitive transcranial magnetic stimulation of the primary motor hand area in Parkinson's disease.

    abstract：:Ten unmedicated patients with Parkinson's disease received sub-threshold 5-Hz repetitive transcranial magnetic stimulation (rTMS) over the primary motor hand area (M1(HAND)) contralaterally to the more affected upper limb. Compared to a midfrontal sham-rTMS, real-rTMS over M1(HAND) was associated with a significant de...

    journal_title：Journal of the neurological sciences

    pub_type： 临床试验,杂志文章

    doi：10.1016/s0022-510x(00)00370-1

    authors： Siebner HR,Rossmeier C,Mentschel C,Peinemann A,Conrad B

    更新日期：2000-09-15 00:00:00

  • The effects of cystatin C and alkaline phosphatase changes on cognitive function 12-months after bariatric surgery.

    abstract：BACKGROUND:The mechanisms for improved cognitive function post-bariatric surgery are not well understood. Markers of kidney and liver function (i.e., cystatin C and alkaline phosphatase (ALP)) are elevated in obese individuals and associated with poor neurocognitive outcomes in other samples. Bariatric surgery can impr...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.07.037

    authors： Alosco ML,Spitznagel MB,Strain G,Devlin M,Cohen R,Crosby RD,Mitchell JE,Gunstad J

    更新日期：2014-10-15 00:00:00

  • Intact emotion recognition and experience but dysfunctional emotion regulation in idiopathic Parkinson's disease.

    abstract：BACKGROUND:A specific non-motor impairment in Parkinson's disease (PD) concerns difficulties to accurately identify facial emotions. Findings are numerous but very inconsistent, ranging from general discrimination deficits to problems for specific emotions up to no impairment at all. By contrast, only a few studies exi...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.12.007

    authors： Ille R,Wabnegger A,Schwingenschuh P,Katschnig-Winter P,Kögl-Wallner M,Wenzel K,Schienle A

    更新日期：2016-02-15 00:00:00

  • Correlation of impaired subjective visual vertical and postural instability in Parkinson's disease.

    abstract：:Perception of verticality is essential for postural control. On the other hand, postural instability is one of the cardinal features in Parkinson's disease (PD). Thus, the objective of this study was to evaluate the vertical perception using the subjective visual vertical test in PD patients with different degrees of ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.07.057

    authors： Pereira CB,Kanashiro AK,Maia FM,Barbosa ER

    更新日期：2014-11-15 00:00:00

  • Association of interleukin-6-572G/C gene polymorphisms in the Cantonese population with intracranial aneurysms.

    abstract：:Recent studies have demonstrated that cytokines play an important role in the pathogenesis of intracranial aneurysms (IAs). Interleukin-6 (IL-6) is an important proinflammatory cytokine. In our study, we investigated the association of genetic variants within the gene encoding interleukin-6-572G/C (IL-6-572G/C) with I...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.03.036

    authors： Zhang G,Tu Y,Feng W,Huang L,Li M,Qi S

    更新日期：2011-07-15 00:00:00

  • Lessons from randomised direct comparative trials.

    abstract：:For over a decade, four immunomodulatory therapies have been available for the treatment of relapsing remitting multiple sclerosis. However, few direct comparative data were available to facilitate the choice of treatment. This choice has been influenced by the perception that interferon-beta preparations have greater...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/S0022-510X(09)70007-3

    authors： Achiron A,Fredrikson S

    更新日期：2009-02-01 00:00:00

  • Prevalence and pattern of cognitive impairment in systemic lupus erythematosus patients with and without overt neuropsychiatric manifestations.

    abstract：:The prevalence and pattern of cognitive impairment in systemic lupus erythematosus (SLE) patients with (NPSLE) and without (nSLE) overt neuropsychiatric manifestations were investigated. Fifty-two nSLE patients, 23 NPSLE patients and 27 healthy controls were evaluated with a battery of standardized neuropsychological ...

    journal_title：Journal of the neurological sciences

    pub_type： 临床试验,杂志文章

    doi：10.1016/s0022-510x(00)00492-5

    authors： Monastero R,Bettini P,Del Zotto E,Cottini E,Tincani A,Balestrieri G,Cattaneo R,Camarda R,Vignolo LA,Padovani A

    更新日期：2001-02-15 00:00:00

  • Concurrent Guillain-Barré syndrome, transverse myelitis and encephalitis post-Zika: A case report and review of the pathogenic role of multiple arboviral immunity.

    abstract：:We review post-infectious and post-vaccination neurological syndromes involving peripheral and central nervous system (CNS) and report an illustrative case of simultaneous occurrence of Guillain-Barré syndrome (GBS), confirmed by nerve conduction velocities, plus MRI-demonstrated transverse myelitis (TM) and acute enc...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2018.09.028

    authors： Mancera-Páez O,Román GC,Pardo-Turriago R,Rodríguez Y,Anaya JM

    更新日期：2018-12-15 00:00:00

  • Affinity immunoblotting: rapid and sensitive detection of oligoclonal IgG, IgA and IgM in unconcentrated CSF by agarose isoelectric focusing.

    abstract：:Two methods for the investigation of oligoclonal immunoglobulin bands in cerebrospinal fluid are compared. Isoelectric focusing (IEF) in agarose gels combined with a highly sensitive affinity immunoblotting proved to be superior to PAGE-IEF and silver staining regarding detection sensitivity and expenditure of labour....

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(91)90167-6

    authors： Kaiser R

    更新日期：1991-06-01 00:00:00

  • The prevalence of alcoholic cerebellar atrophy. A morphometric and histological study of an autopsy material.

    abstract：:The Purkinje cell densities in the cerebellar vermis were determined in 31 male alcoholics and 34 non-alcoholic controls under 70 years of age. In addition, all cases were examined histologically for atrophy of the superior vermis. All analyses were performed independently of each other and on randomized slides. The a...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(86)90049-3

    authors： Torvik A,Torp S

    更新日期：1986-08-01 00:00:00