Peripheral neuropathy of Machado-Joseph disease in Taiwan: a morphometric and genetic study.

Abstract:

:Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and peripheral neuropathy. Presented here are 5 MJD cases. A morphometric analysis of the histopathology of their sural nerves was carried out to know the relationship between axon size and myelin thickness. MJD cases were identified by polymerase chain reaction. On the basis of the clinical symptoms, there was 1 type I, 2 type II and 2 type III patients. The sural nerves were biopsied for single-fiber, ultrastructural and morphometric analysis. Morphometric parameters such as fiber and axon sizes, myelin thickness and g ratio (axon diameter:fiber diameter) were estimated. The pathological features of the sural nerves in the 2 type III and 1 of the type II patients revealed a loss of myelinated and unmyelinated fibers, and the morphometry studies showed a decreased fiber density, the loss of large myelinated fibers, a smaller size of the axons with thinner myelin sheaths and an increased percentage of myelinated fibers with a g ratio (axon diameter:fiber diameter) above 0.7. However, only subtle pathological changes were noted in the type I patient and the remaining type II patient. Our findings suggested that there is a loss of large myelinated fibers and distal axonopathy with relative hypomyelination in the neuropathy of patients with MJD.

journal_name

Eur Neurol

journal_title

European neurology

authors

Lin KP,Soong BW

doi

10.1159/000066169

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

210-7

issue

4

eissn

0014-3022

issn

1421-9913

pii

66169

journal_volume

48

pub_type

杂志文章
  • Presentation, etiology, diagnosis, and management of camptocormia.

    abstract::Camptocormia (bent spine syndrome, cyphose hystérique) is an abnormality characterized by severe forward flexion of the thoracolumbar spine which typically increases during walking or standing and completely disappears in supine position. Camptocormia can be due to central nervous system diseases, such as Parkinson's ...

    journal_title:European neurology

    pub_type: 杂志文章,评审

    doi:10.1159/000314897

    authors: Finsterer J,Strobl W

    更新日期:2010-01-01 00:00:00

  • Neurology and the lupus anticoagulant.

    abstract::The lupus anticoagulant, an immunoglobulin of the IgG or IgM class, is one of a group of antiphospholipid antibodies. Although an anticoagulant in vitro, its action in vivo is that of a procoagulant. This procoagulant activity may involve many organ systems including the nervous system. Thus far cerebral thrombosis, s...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115836

    authors: Englert H,Derue G,Hughes GR

    更新日期:1985-01-01 00:00:00

  • Left tuberothalamic artery territory infarction: neuropsychological and MRI features.

    abstract::We examined a 29-year-old woman who had language disturbances and memory impairment after a left thalamic infarction. MRI showed injury that was limited to the tuberothalamic artery territory. Beside reduced voice volume and verbal memory trouble, she presented with aspontaneity, loss of psychic self-activation and af...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000116930

    authors: Lisovoski F,Koskas P,Dubard T,Dessarts I,Dehen H,Cambier J

    更新日期:1993-01-01 00:00:00

  • Phenotypic variation of autosomal-dominant corticobasal degeneration.

    abstract::Neurodegenerative tauopathies may be inherited as autosomal-dominant disorders with variable clinicopathological phenotypes, and causative mutations in the microtubule-associated protein tau (MAPT) gene are not regularly seen. Herein, we describe a patient with clinically typical and autopsy-proven corticobasal degene...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000334731

    authors: Jung HH,Bremer J,Streffer J,Virdee K,Spillantini MG,Crowther RA,Brugger P,Van Broeckhoven C,Aguzzi A,Tolnay M

    更新日期:2012-01-01 00:00:00

  • Thalamic infarcts in young adults: relationship between clinical-topographic features and pathogenesis.

    abstract:BACKGROUND:Most reports on thalamic infarcts have focused on clinicoanatomical correlations while the mechanisms of stroke have rarely been investigated. Moreover, most series have included mainly elderly stroke patients, whereas scarce information is available about the etiology of thalamic infarcts in the young. OBJ...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000047944

    authors: Pezzini A,Del Zotto E,Archetti S,Albertini A,Gasparotti R,Magoni M,Vignolo LA,Padovani A

    更新日期:2002-01-01 00:00:00

  • Multiple sclerosis. A clinical study of 70 cases.

    abstract::70 cases of multiple sclerosis were seen at the Department of Neurology of the Capital Hospital in 1949--1977. There were 25 males and 45 females averaging 30.6 years of age. The most frequent sites of the lesions based on the clinical symptomatology were the spinal cord and optic nerve, the cerebellum was much less f...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115267

    authors: Zhao BX,Liu XQ,Guo YP,Yang YC,Huang HF

    更新日期:1981-01-01 00:00:00

  • Is cerebrospinal fluid spectrophotometry useful in CT scan-negative suspected subarachnoid haemorrage?

    abstract::Missed cerebral aneurysms in CT-negative patients can have serious implications. We set out to determine the usefulness of cerebrospinal fluid (CSF) spectrophotometry and the individual significance of CSF oxyhaemoglobin, bilirubin and methaemoglobin in 463 CT scan-negative patients with suspected subarachnoid haemorr...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000082162

    authors: Gunawardena H,Beetham R,Scolding N,Lhatoo SD

    更新日期:2004-01-01 00:00:00

  • Paralysis of upward gaze as a presenting symptom of vitamin B12 deficiency.

    abstract::A 47-year-old woman presented with paralysis of upward gaze associated with Addison's pernicious anaemia. Administration of cyanocobalamin resulted in significant improvement of eye movements and haematological parameters. Isolated paralysis of upward gaze may be a feature of vitamin B12 deficiency. ...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115702

    authors: Sandyk R

    更新日期:1984-01-01 00:00:00

  • A laser microprobe mass analysis of brain aluminum and iron in dementia pugilistica: comparison with Alzheimer's disease.

    abstract::We report a laser microprobe mass analysis of aluminum and iron content in the hippocampus and in the inferior temporal cortex in 2 cases of dementia pugilistica (DP), 4 cases of Alzheimer's disease (AD), and 3 controls. There was a predominant accumulation of Al and Fe within neurofibrillary tangles (NFT) in both DP ...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000112903

    authors: Bouras C,Giannakopoulos P,Good PF,Hsu A,Hof PR,Perl DP

    更新日期:1997-01-01 00:00:00

  • Electrocardiographic findings in motor neurone disease.

    abstract::The electrocardiogram was analyzed in 31 patients with motor neurone disease. ECG abnormalities were encountered in 27 of the patients. The dominating ECG changes consisted of ST-T wave changes and supraventricular arrhythmias. The underlying mechanisms are discussed in relation to the neurological symptomatology. ...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000114770

    authors: Hindfelt B

    更新日期:1976-01-01 00:00:00

  • T lymphocytes in cerebrospinal fluid from patients with neurological diseases.

    abstract::T lymphocytes were determined according to their ability to form rosettes with sheep erythrocytes, in cerebrospinal fluid (CSF) from 120 patients, and in peripheral blood from 59 patients. Normal CSF contained 74.9 +/- 9.6% T lymphocytes. Increased T lymphocyte percentage was found in CSF from patients with active mul...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115074

    authors: Naess A

    更新日期:1979-01-01 00:00:00

  • Recurrent alternating ophthalmoplegia with iridoplegia in a young diabetic.

    abstract::Regressive painless left third nerve paralysis with pupillary involvement was followed 6 months later by a right painful complete ophthalmoplegia. The two attacks resolved without treatment. The patient, 22 years old, was recognized diabetic and no other cause was found. It is suggested that this clinical pattern is c...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115554

    authors: Davous P,Demierre B,Massiou H

    更新日期:1983-01-01 00:00:00

  • Isolated so-called apraxia of eyelid opening: report of 10 cases and a review of the literature.

    abstract::So-called apraxia of eyelid opening (scAEO) has been described chiefly in the context of extrapyramidal disorders. We described 10 new patients with scAEO developing in the absence of any other CNS sign and reviewed the 11 cases with isolated scAEO reported in the literature. Combining our patients and those from the ...

    journal_title:European neurology

    pub_type: 杂志文章,评审

    doi:10.1159/000007935

    authors: Defazio G,Livrea P,Lamberti P,De Salvia R,Laddomada G,Giorelli M,Ferrari E

    更新日期:1998-01-01 00:00:00

  • Malpighi and the discovery of capillaries.

    abstract::Leonardo da Vinci clearly observed and described capillaries. Using the microscope, Marcello Malpighi examined the brain and major organs to demonstrate their finer anatomical features. This led to his discovery in 1661, of capillaries that proved fundamental to our understanding of the vascular system in the brain an...

    journal_title:European neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1159/000107974

    authors: Pearce JM

    更新日期:2007-01-01 00:00:00

  • Single photon emission computed tomography with technetium-99m hexamethyl propylenamino oxime in the pain-free interval of migraine and cluster headache.

    abstract::Thirty-three headache-free patients (19 F/14 M) suffering from common (n = 9) and classic migraine (n = 19) as well as cluster headache (n = 5) were investigated using the flow tracer 99mTc-hexamethyl propylenamino oxime and single photon emmission computed tomography. A regional decrease of cerebral tracer uptake was...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000117334

    authors: Schlake HP,Böttger IG,Grotemeyer KH,Husstedt IW,Vollet B,Schober O,Brune GG

    更新日期:1990-01-01 00:00:00

  • Sensory action potentials and biopsy of the sural nerve in the neuropathy of nonmalignant IgMk plasma cell dyscrasia.

    abstract::Electrophysiological findings in 10 patients with polyneuropathy and nonmalignant IgMk plasma cell dyscrasia are reported. The amplitude of sensory action potentials and maximum conduction velocity along the sural and median nerves are related to the structural changes found at the biopsy and to the immunologic result...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115979

    authors: Galassi G,Nemni R

    更新日期:1986-01-01 00:00:00

  • Possible interference between migrainous and epileptic mechanisms in intercalated attacks. Case report.

    abstract::The possibility that epileptic seizures and classic migraine episodes may occur in the same patient is discussed. The probable relationship between the neurophysiological mechanisms which underlie both types of attacks has not yet been agreed upon. The case of a young man who suffered from classic migraine and who pre...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115066

    authors: Manzoni GC,Terzano MG,Mancia D

    更新日期:1979-01-01 00:00:00

  • Impact of female gender on prognosis in type 2 diabetic patients with ischemic stroke.

    abstract::This study assessed gender differences in diabetic patients with ischemic stroke with respect to vascular risk factors, clinical features and early outcome. Ischemic stroke was diagnosed in 261 diabetic women and 300 diabetic men of 2,446 ischemic stroke patients included in a prospective stroke registry over 17 years...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000094249

    authors: Arboix A,Milian M,Oliveres M,García-Eroles L,Massons J

    更新日期:2006-01-01 00:00:00

  • Can oral 311C90, a novel 5-HT1D agonist, prevent migraine headache when taken during an aura?

    abstract::The purpose of this pilot study was to determine whether 20 mg oral 311C90 can prevent the development of migraine headache when taken during the aura phase of a migraine attack. The study also aimed to provide an initial safety profile for 311C90 when taken during the aura. Forty patients (31 females, 9 males) were e...

    journal_title:European neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1159/000119101

    authors: Dowson A

    更新日期:1996-01-01 00:00:00

  • Basal ganglia calcification and psychosis in mongolism.

    abstract::An 18-year-old mongoloid girl (trisomy 21) of Asian descent presented two symptoms rarely associated with mongolism (Down's syndrome). (1) Brain stem calcification; the first case diagnosed in vivo in mongolism on computerized axial tomography. (2) Hallucinatory psychotic depression; the first case successfully treate...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000114963

    authors: Jakab I

    更新日期:1978-01-01 00:00:00

  • Focal neurological deficit with sudden onset as the first manifestation of sarcoidosis: a case report with MRI follow-up.

    abstract::Stroke as a presenting manifestation of sarcoidosis has rarely been reported. This contrasts with the frequent anatomopathological findings of cerebrovascular involvement in neurosarcoidosis. We present a patient who developed acutely a right brachiofacial weakness and dysarthria. Pulmonary sarcoidosis was found. A br...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000116697

    authors: Michotte A,Dequenne P,Jacobovitz D,Hildebrand J

    更新日期:1991-01-01 00:00:00

  • Drug-induced headache: long-term follow-up of withdrawal therapy and persistence of drug misuse.

    abstract::Patients suffering from migraine, tension-type headache (TTH), or combined headache (CH) are at risk of developing drug-induced headache (DIH) due to regular use of analgesics, ergot alkaloids, and triptans. The aim of our study was to determine (1) the clinical features of DIH, (2) the outcome of withdrawal therapy u...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000052134

    authors: Fritsche G,Eberl A,Katsarava Z,Limmroth V,Diener HC

    更新日期:2001-01-01 00:00:00

  • Wernicke's encephalopathy with cortical abnormalities: clinicoradiological features: report of 3 new cases and review of the literature.

    abstract:OBJECTIVE:To investigate clinical and magnetic resonance imaging (MRI) features of Wernicke's encephalopathy with cortical abnormalities (WEc). METHODS:We retrospectively evaluated the clinical features and MRI findings in 3 cases of WEc in comparison with those of 7 previously reported cases. RESULTS:Besides the cla...

    journal_title:European neurology

    pub_type: 杂志文章,评审

    doi:10.1159/000235596

    authors: Sakurai K,Sasaki S,Hara M,Yamawaki T,Shibamoto Y

    更新日期:2009-01-01 00:00:00

  • Neurophysiological findings and serum aluminium in dialysis encephalopathy.

    abstract::64 patients on hemodialysis were investigated. The mean duration of dialysis was 43 months. In all the patients, serum aluminium levels, systolic blood pressure (averaged over a period of 6 weeks) and the EEG were investigated. Psychological testing to assess the level of intelligence (IQ) was also performed. The seru...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115500

    authors: Ladurner G,Wawschinek O,Pogglitsch H,Petek W,Urlesberger H,Holzer H

    更新日期:1982-01-01 00:00:00

  • Myasthenia gravis: protective effect of ipratropiumbromide (Atrovent) on airways obstruction caused by edrophonium chloride (Tensilon).

    abstract::The preventive effect of Atrovent Dosier-Aerosol on the airway flow resistance (Raw) caused by Tensilon was studied on 10 patients suffering from myasthenia gravis. Atrovent completely prevented the increase of Raw in 8 cases and considerably decreased it in 2 cases. The measure of the reaction observed may be influen...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000115206

    authors: Szathmáry I,Magyar P,Szobor A

    更新日期:1981-01-01 00:00:00

  • The side and somatotopical location of single small infarcts in the corona radiata and pontine base in relation to contralateral limb paresis and dysarthria.

    abstract::The aim of this study was to investigate whether the side and location of single small infarcts (< or = 3 cm) in the corona radiata (28 patients) and pontine base (36 patients) influence the incidence of contralateral upper or lower limb paresis and dysarthria. While the severity of contralateral limb paresis was not ...

    journal_title:European neurology

    pub_type: 临床试验,杂志文章

    doi:10.1159/000117290

    authors: Tohgi H,Takahashi S,Takahashi H,Tamura K,Yonezawa H

    更新日期:1996-01-01 00:00:00

  • Triphasic waves and cerebral tumors.

    abstract::Three patients with cerebral tumor involving diencephalic midline structures (2 malignant gliomas, 1 craniopharyngioma) and no metabolic abnormalities developed disorientation in time and place or coma with triphasic waves (TW) seen on electroencephalograms. Serial EEG recordings showed persistence or disappearance of...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000116614

    authors: Aguglia U,Gambardella A,Oliveri RL,Lavano A,Camerlingo R,Quattrone A

    更新日期:1990-01-01 00:00:00

  • Association between renal function and clinical outcome in patients with acute stroke.

    abstract:BACKGROUND AND PURPOSE:Data on the association between renal dysfunction and outcome in patients with stroke are controversial and scarce. We investigated the predictors of renal dysfunction upon admission and the association between renal dysfunction and clinical outcome in patients with acute stroke in a hospitalized...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000285165

    authors: Hao Z,Wu B,Lin S,Kong FY,Tao WD,Wang DR,Liu M

    更新日期:2010-01-01 00:00:00

  • Three cases of focal embouchure dystonia: classifications and successful therapy using a dental splint.

    abstract:BACKGROUND:Focal embouchure dystonia (FED) is a type of task-specific dystonia affecting wind instrument players, and it frequently ends their professional careers. The results of the treatments of FED in the reported literature are disappointing. OBJECTIVE:We report 3 patients with FED who were brass instrument playe...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000329578

    authors: Satoh M,Narita M,Tomimoto H

    更新日期:2011-01-01 00:00:00

  • No mutation of G209A in the alpha-synuclein gene in sporadic Parkinson's disease among Taiwan Chinese.

    abstract::The role of genetics in Parkinson's disease (PD), previously controversial, is now supported by several studies. A major breakthrough has been the discovery of a single gene defect in familial Parkinson's disease. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein g...

    journal_title:European neurology

    pub_type: 杂志文章

    doi:10.1159/000008008

    authors: Hu CJ,Sung SM,Liu H,Chang JG

    更新日期:1999-01-01 00:00:00