Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.

abstract：:We recorded saccadic, pursuit and fixation eye movements in patients (n = 5) with moderately advanced Huntington's disease (HD), offspring of HD patients (n = 22) and control subjects (n = 15), using the scleral sensor coil technique. Saccadic slowing was seen in all patients, no controls and (marginally) in a few at-...

journal_title：Journal of the neurological sciences

authors： Collewijn H,Went LN,Tamminga EP,Vegter-Van der Vlis M

更新日期：1988-09-01 00:00:00

abstract：:We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic. Histochemical ...

journal_title：Journal of the neurological sciences

authors： Crews J,Kaiser KK,Brooke MH

更新日期：1976-08-01 00:00:00

abstract：:A point mutation at codon 210 (GTT to ATT) of the prion protein gene on chromosome 20 was found in a 48-year-old CJD-affected woman of a Chinese family. This affected woman had an early onset and long-duration form of CJD. Serial magnetic resonance image (MRI) analysis of this woman showed severe brain atrophy, promin...

journal_title：Journal of the neurological sciences

authors： Shyu WC,Hsu YD,Kao MC,Tsao WL

更新日期：1996-11-01 00:00:00

abstract：OBJECTIVE:The Circle of Willis (CoW) is often underdeveloped or incomplete, leading to suboptimal blood supply to the brain. As hypoperfusion is thought to play a role in the aetiology of white matter hyperintensities (WMH), the objective of this study was to assess whether incomplete CoW variants were associated with ...

journal_title：Journal of the neurological sciences

authors： Hindenes LB,Håberg AK,Mathiesen EB,Vangberg TR

更新日期：2021-01-15 00:00:00

abstract：:Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neu...

journal_title：Journal of the neurological sciences

authors： Verkkoniemi A,Ylikoski R,Rinne JO,Somer M,Hietaharju A,Erkinjuntti T,Viitanen M,Kalimo H,Haltia M

更新日期：2004-03-15 00:00:00

abstract：:Ophthalmological examination and visual evoked responses (VERs) were repeated at 6-120 (mean 46) months after the first attack of acute optic neuritis in 80 patients who had abnormal VERs in 98 symptomatic eyes at the initial examination. The wide field VER returned to within the normal range in 19/98 (19%) symptomati...

journal_title：Journal of the neurological sciences

authors： Hely MA,McManis PG,Walsh JC,McLeod JG

更新日期：1986-10-01 00:00:00

abstract：:We found that fused human muscle in culture supports neurotropic influenza A viral infection, as demonstrated by viral growth experiments, hemadsorption, observation of cytopathic changes and detection of intracellular viral antigen. The time of peak virion production and the appearance of cytopathic effects in these ...

journal_title：Journal of the neurological sciences

authors： Armstrong CL,Miranda AF,Hsu KC,Gamboa ET

更新日期：1978-01-01 00:00:00

abstract：:The purpose of the investigation was to elucidate the repeatedly discussed relationship between chronic lead intoxication and ALS. The following mean lead concentrations were determined in 9 patients with ALS: 8.65 +/- 3,91 micrograms/100 ml in the blood, 0.97 +/- 0.78 microgram/100 ml in the plasma, 19.15 +/- 5.0 mic...

journal_title：Journal of the neurological sciences

authors： Stober T,Stelte W,Kunze K

更新日期：1983-09-01 00:00:00

abstract：:Recordings have been made from afferent fibres shown to traverse a focal demyelinating lesion induced in the dorsal columns of the cat by the direct micro-injection of lysophosphatidyl choline. Many fibres were spontaneously active, discharging with steady frequencies between 15 and 45 impulses per second or dischargi...

journal_title：Journal of the neurological sciences

authors： Smith KJ,McDonald WI

更新日期：1982-07-01 00:00:00

abstract：BACKGROUND:Postural instability is often experienced in the late stages of PD and is a marker of disease progression. Little information is available on the role of visual inputs as an adaptive strategy to compensate for postural instability in PD. The purpose of this study was to determine visual dependency for postur...

journal_title：Journal of the neurological sciences

authors： Panyakaew P,Anan C,Bhidayasiri R

更新日期：2015-02-15 00:00:00

abstract：:The inflammation plays a critical role in the stroke onset and even in the worsening of the lesions. Therefore, the investigation of inflammatory response in the acute stage may contribute to improve the treatment of ischemic stroke. High-sensitive CRP (hsCRP), IL-6 and TNFalpha were measured as inflammatory markers o...

journal_title：Journal of the neurological sciences

authors： Nakase T,Yamazaki T,Ogura N,Suzuki A,Nagata K

更新日期：2008-08-15 00:00:00

abstract：:Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and W...

journal_title：Journal of the neurological sciences

authors： Giorgio E,Vaula G,Bosco G,Giacone S,Mancini C,Calcia A,Cavalieri S,Di Gregorio E,Rigault De Longrais R,Leombruni S,Pinessi L,Cerrato P,Brusco A,Brussino A

更新日期：2015-05-15 00:00:00

abstract：:The effects of combined treatment with low-density lipoprotein (LDL)-apheresis, chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase inhibitor were studied in 2 patients with cerebrotendinous xanthomatosis. Patient 1 was initially treated with LDL-apheresis alone: serum cholestanol level...

journal_title：Journal of the neurological sciences

authors： Ito S,Kuwabara S,Sakakibara R,Oki T,Arai H,Oda S,Hattori T

更新日期：2003-12-15 00:00:00

abstract：:The notion that there is an association between essential tremor (ET) and higher ethanol consumption has crept into the literature; however, the data are limited and conflicted. A total of 354 ET cases and 370 matched controls were enrolled in a clinical-epidemiological study. Average current daily ethanol consumption...

journal_title：Journal of the neurological sciences

authors： Louis ED,Michalec M

更新日期：2014-12-15 00:00:00

abstract：:Functional and structural damage in postanoxic persistent vegetative state (PVS) was analysed using 18fluorodeoxyglucose PET (FDG-PET) coregistered to 3-D MRI in combination with morphometric 3-D MRI analysis (voxel-based morphometry, VBM). In five patients in late stages of non-traumatic PVS, combined analysis using ...

journal_title：Journal of the neurological sciences

authors： Juengling FD,Kassubek J,Huppertz HJ,Krause T,Els T

更新日期：2005-02-15 00:00:00

abstract：:The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. Here we report a patient with the 3243A>G mutation presenting only recurrent muscle fatigue and elevated levels of serum creatine kinase (CK). The mother of the proband was referred to us for type 2 diabetes mellitus, muscle pain and sensorineura...

journal_title：Journal of the neurological sciences

authors： Rubegni A,Cardaioli E,Chini E,Da Pozzo P,Battisti C,Malandrini A,Federico A

更新日期：2014-03-15 00:00:00

abstract：:Sympathetic skin response (SSR) is a simple, reproducible test of function of a polysynaptic reflex having diverse afferents, a common efferent pathway through the spinal cord, pre and post-ganglionic sympathetic fibers and with sweat glands as effectors. The reflex is co-ordinated in the posterior hypothalamus or upp...

journal_title：Journal of the neurological sciences

authors： Arunodaya GR,Taly AB

更新日期：1995-04-01 00:00:00

abstract：:The nosological relationship between Bickerstaff s brainstem encephalitis (BBE) and Guillain-Barre syndrome (GBS) has yet to be clarified. We report results of the autopsy of a patient for whom overlapping BBE and GBS was diagnosed clinically. This and similar cases support the original authors' hypothesis that BBE is...

journal_title：Journal of the neurological sciences

authors： Yuki N,Wakabayashi K,Yamada M,Seki K

更新日期：1997-01-01 00:00:00

abstract：OBJECTIVE:To study the impact of Guillain-Barré Syndrome (GBS) on the psychosocial functioning of the closest relative and on family functioning during the first year after GBS. METHOD:At 1 (=T1), 3 (=T3), 6 (=T6), and 12 months (=T12) after the onset of GBS, relatives of patients received the General Health Questionn...

journal_title：Journal of the neurological sciences

authors： Bernsen RA,de Jager AE,van der Meché FG,Suurmeijer TP

更新日期：2006-05-15 00:00:00

abstract：BACKGROUND:Although a number of studies reported different interictal findings between migraine with aura (MA) and migraine without aura (MO), the pathophysiology of the visual aura in migraine remains unclear. OBJECTIVE:To investigate the visual processing in patients who experience MA between attacks using steady-st...

journal_title：Journal of the neurological sciences

authors： Shibata K,Yamane K,Otuka K,Iwata M

更新日期：2008-08-15 00:00:00

abstract：BACKGROUND:Tourette syndrome (TS) is a neurodevelopmental condition characterised by multiple tics and co-morbid behavioural problems. Previous research found that up to 76% of patients with TS experience affective symptoms, with 13% fulfilling diagnostic criteria for depression. OBJECTIVES:We aimed to assess the seve...

journal_title：Journal of the neurological sciences

authors： Piedad JC,Cavanna AE

更新日期：2016-05-15 00:00:00

abstract：:The fibre composition of functionally different regions, the superficial and the deep portions, of the human masseter and the biceps brachii muscles of six elderly subjects (mean age 74 years) was studied by morphological and enzyme-histochemical methods. When compared to previous data for young adults, the masseter m...

journal_title：Journal of the neurological sciences

authors： Monemi M,Eriksson PO,Eriksson A,Thornell LE

更新日期：1998-01-21 00:00:00

abstract：:The phase of rapid reduction of isometric strength in single muscle groups was identified and its slope was calculated in patients studied with the TQNE method. This parameter was studied in the extremities and in respiration in 4 ALS patients and 4 PMA (progressive spinal muscle atrophy) patients. The slopes of the s...

journal_title：Journal of the neurological sciences

authors： Conradi S,Ronnevi LO

更新日期：1996-08-01 00:00:00

abstract：:Intellectual problems are a recognized feature of neurofibromatosis 1 (NF1) but their aetiology is unknown. We investigated the frequency, nature, severity and cause of intellectual impairment in NF1. We undertook neurological and psychometric assessments on 103 patients with NF1 and 105 controls equated for age, sex ...

journal_title：Journal of the neurological sciences

authors： Ferner RE,Hughes RA,Weinman J

更新日期：1996-06-01 00:00:00

abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, motor developmental delay, ataxia, and progressive spasticity. The gap junction protein gamma-2 gene (GJC2), encoding the gap junction protein connexin 47, is one of the...

journal_title：Journal of the neurological sciences

authors： Shimojima K,Tanaka R,Shimada S,Sangu N,Nakayama J,Iwasaki N,Yamamoto T

更新日期：2013-07-15 00:00:00

abstract：:We studied the limitations to early diagnosis in amyotrophic lateral sclerosis (ALS). The diagnostic process was assessed in 120 consecutive patients, including onset, interval to diagnosis, investigations, specialist assessment and pre-diagnostic management. Times from onset to first consultation (T1), second consult...

journal_title：Journal of the neurological sciences

authors： Nzwalo H,de Abreu D,Swash M,Pinto S,de Carvalho M

更新日期：2014-08-15 00:00:00

abstract：:Differentiating Parkinson's disease (PD) from other types of neurodegenerative atypical parkinsonism (AP) can be challenging, especially in early disease stages. Routine brain magnetic resonance imaging (MRI) can show atrophy or signal changes in several parts of the brain with fairly high specificity for particular f...

journal_title：Journal of the neurological sciences

authors： Meijer FJ,Bloem BR,Mahlknecht P,Seppi K,Goraj B

更新日期：2013-09-15 00:00:00

abstract：BACKGROUND:Apolipoprotein E (APOE) gene ε4, 2 alleles have been reported to be associated with multiple sclerosis (MS), but results were conflicting. In order to derive a more precise estimation of the associations, a meta-analysis was performed. METHODS:The PubMed, EBSCO and BIOSIS databases were searched to identify...

journal_title：Journal of the neurological sciences

authors： Xuan C,Zhang BB,Li M,Deng KF,Yang T,Zhang XE

更新日期：2011-09-15 00:00:00

abstract：BACKGROUND:There is little information about intracranial atherosclerotic disease (ICAD) and extracranial atherosclerotic disease (ECAD) in patients with acute spontaneous intracerebral hemorrhage (ICH). The purpose of the present study was to elucidate the prevalence of and the factors that correlate with ICAD and ECA...

journal_title：Journal of the neurological sciences

authors： Sato S,Uehara T,Hayakawa M,Nagatsuka K,Minematsu K,Toyoda K

更新日期：2013-09-15 00:00:00

abstract：:Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephed...

journal_title：Journal of the neurological sciences

authors： Chen C,Biller J,Willing SJ,Lopez AM

更新日期：2004-01-15 00:00:00