Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis.

abstract：:We describe three patients in whom an isolated sixth nerve palsy was the only clinical symptom or sign of multiple sclerosis (MS). Data were collected prospectively over 6 years on these three patients, who showed no other signs of brainstem dysfunction or prior symptoms; in addition. Retrospective analysis of all pat...

journal_title：Journal of neurology

authors： Barr D,Kupersmith MJ,Turbin R,Bose S,Roth R

更新日期：2000-09-01 00:00:00

abstract：:Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias (ARCAs), two X-linked ataxias, and several forms of ataxia associated with mitochondrial defects. Despite the steady increase in the number of ...

journal_title：Journal of neurology

authors： Mancuso M,Orsucci D,Siciliano G,Bonuccelli U

更新日期：2014-09-01 00:00:00

abstract：:Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. Down syndrome (DS) is associated with mental retardation and development of Alzheimer-like brain abnormalities. In th...

journal_title：Journal of neurology

authors： Del Bo R,Comi GP,Giorda R,Crimi M,Locatelli F,Martinelli-Boneschi F,Pozzoli U,Castelli E,Bresolin N,Scarlato G

更新日期：2003-06-01 00:00:00

abstract：:Psychiatric complaints are common in Parkinson's disease (PD), and have a significant influence in disease outcome and quality of life. Little attention has been paid to psychiatric symptoms at early stage disease. We aimed to screen a population of early stage PD patients for psychiatric symptoms and to study the rel...

journal_title：Journal of neurology

authors： Bugalho P,da Silva JA,Cargaleiro I,Serra M,Neto B

更新日期：2012-01-01 00:00:00

abstract：:This review summarizes topical papers from the fields of neuro-ophthalmology and neuro-otology published from August 2013 to February 2015. The main findings are: (1) diagnostic criteria for pseudotumor cerebri have been updated, and the Idiopathic Intracranial Hypertension Treatment Trial evaluated the efficacy of ac...

journal_title：Journal of neurology

authors： Gold DR,Zee DS

更新日期：2015-12-01 00:00:00

abstract：:Glucocorticoids are the standard of care for multiple sclerosis (MS) relapses, but the most desirable route of administration is still matter of debate. The aim of the study was to compare the efficacy and safety of oral versus intravenous steroids for treatment of acute relapses in patients with MS. Randomized or qua...

journal_title：Journal of neurology

authors： Lattanzi S,Cagnetti C,Danni M,Provinciali L,Silvestrini M

更新日期：2017-08-01 00:00:00

abstract：:Demographic and clinical features and data on medical history and prior environmental exposure collected during an epidemiological long-term study of multiple sclerosis (MS) were tested for their possible prognostic value. Fifty-two benign MS patients were compared with 29 patients having a malignant course. A primary...

journal_title：Journal of neurology

authors： Lauer K,Firnhaber W

更新日期：1992-02-01 00:00:00

abstract：:Polysomnography (PSG) is considered the gold standard for diagnosis of non-rapid eye movement (NREM) parasomnias, however its diagnostic yield has been rarely reported. We aimed to assess the diagnostic value of polysomnography in different categories of patients with suspected NREM parasomnia and define variables tha...

journal_title：Journal of neurology

authors： Fois C,Wright MA,Sechi G,Walker MC,Eriksson SH

更新日期：2015-02-01 00:00:00

abstract：:Frailty is known to predict dementia. However, its link with neurodegenerative alterations of the central nervous system (CNS) is not well understood at present. We investigated the association between the biomechanical response of the CNS and frailty in older adults suspected of normal pressure hydrocephalus (NPH) pr...

journal_title：Journal of neurology

authors： Vallet A,Del Campo N,Hoogendijk EO,Lokossou A,Balédent O,Czosnyka Z,Balardy L,Payoux P,Swider P,Lorthois S,Schmidt E

更新日期：2020-05-01 00:00:00

abstract：:Cerebrospinal fluid (CSF) levels of interleukin (IL)-6, IL-11 and leukaemia inhibitory factor (LIF) were evaluated in 43 patients with Alzheimer's disease (AD) and 24 patients with frontotemporal lobar degeneration (FTLD) as compared with 30 agematched controls (CON), and correlated with clinical and demographic data ...

journal_title：Journal of neurology

authors： Galimberti D,Venturelli E,Fenoglio C,Guidi I,Villa C,Bergamaschini L,Cortini F,Scalabrini D,Baron P,Vergani C,Bresolin N,Scarpini E

更新日期：2008-04-01 00:00:00

abstract：BACKGROUND:Single, modifiable risk factors for stroke have extensively been studied. In contrast, differences of their combined effects among stroke and transitoy ischemic attack (TIA) have been rarely investigated. The aim of the present study was to assess single and joint effects of risk factors on the incidence of ...

journal_title：Journal of neurology

authors： Weikert C,Berger K,Heidemann C,Bergmann MM,Hoffmann K,Klipstein-Grobusch K,Boeing H

更新日期：2007-03-01 00:00:00

abstract：:Using high-performance liquid chromatography, adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were diagnosed by the analysis of fatty acids in sphingomyelin. The analytical method was simple, sensitive and accurate. In ALD and AMN patients, very long chain fatty acids (C26:0, C25:0 and C24:0 on the base of ...

journal_title：Journal of neurology

authors： Kobayashi T,Katayama M,Suzuki S,Tomoda H,Goto I,Kuroiwa Y

更新日期：1983-01-01 00:00:00

abstract：:Levodopa treatment does improve Parkinson's disease (PD) dysgraphia, but previous research is not in agreement about which aspects are most responsive. This study investigated the effect of levodopa on the kinematics of writing. Twenty-four patients with PD of less than 10 years duration and 25 age-matched controls we...

journal_title：Journal of neurology

authors： Zham P,Kumar D,Viswanthan R,Wong K,Nagao KJ,Arjunan SP,Raghav S,Kempster P

更新日期：2019-06-01 00:00:00

abstract：:Dementia has a reversible cause in some cases, and these should be diagnosed without over-investigating the many patients with irreversible disease. We prospectively studied the prevalence of reversible dementia in a memory clinic, determined the added value of investigations compared with clinical examination and ass...

journal_title：Journal of neurology

authors： Walstra GJ,Teunisse S,van Gool WA,van Crevel H

更新日期：1997-01-01 00:00:00

abstract：:Augmented spinal nociception during the "off" phase has been observed early in Parkinson's disease further increasing with disease duration. To find out whether increased spinal nociception represents a premotor feature, experimental pain sensitivity was assessed in idiopathic REM-sleep behavior disorder (IRBD) patien...

journal_title：Journal of neurology

authors： Boura E,Stamelou M,Vadasz D,Ries V,Unger MM,Kägi G,Oertel WH,Möller JC,Mylius V

更新日期：2017-03-01 00:00:00

abstract：:The various clinical features of multiple system atrophy (MSA) make the diagnosis of the disease difficult, especially in its early stages, when signs of differentiated neuroanatomical system involvement have not yet appeared. Mortality studies may be affected by the variability of the diagnostic criteria and selectio...

journal_title：Journal of neurology

authors： Testa D,Filippini G,Farinotti M,Palazzini E,Caraceni T

更新日期：1996-05-01 00:00:00

abstract：:Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...

journal_title：Journal of neurology

authors： Kimmig H,Haussmann K,Mergner T,Lücking CH

更新日期：2002-06-01 00:00:00

abstract：:Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease with an estimated incidence of 1 in 8000 and is the most common form of muscular dystrophy affecting adults. An unstable, untranslated part of the myotonic dystrophy protein kinase gene on the long arm of chromosome 19, composed of CTG repeats, is ...

journal_title：Journal of neurology

authors： Brugnoni R,Morandi L,Brambati B,Briscioli V,Cornelio F,Mantegazza R

更新日期：1998-05-01 00:00:00

abstract：:The greatest unmet need in multiple sclerosis (MS) are treatments that delay, prevent or reverse progression. One of the most tractable strategies to achieve this is to therapeutically enhance endogenous remyelination; doing so restores nerve conduction and prevents neurodegeneration. The biology of remyelination-cent...

journal_title：Journal of neurology

authors： Cunniffe N,Coles A

更新日期：2021-01-01 00:00:00

abstract：:Levamisole seems to regulate cell-mediated immunity by restoring T-cell function. Since a deficiency of T lymphocytes has been described by various authors in multiple sclerosis patients. Of the 85 patients involved in the trial, evaluation of functional and neurological scores was possible in 54 (32 with placebo and ...

journal_title：Journal of neurology

authors： Gonsette RE,Demonty L,Delmotte P,Decree J,de Cock W,Verhaeghen H,Symoens J

更新日期：1982-01-01 00:00:00

abstract：:Recent years have seen substantial news and updates in the genetics and diagnosis of schwannomas, even a new hereditary disease with schwannomas; Schwannomatosis has been defined. These developments have consequently led to better evaluation of the incidence of schwannomas. Although there has also been progress in the...

journal_title：Journal of neurology

authors： Hanemann CO,Evans DG

更新日期：2006-12-01 00:00:00

abstract：:We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affe...

journal_title：Journal of neurology

authors： Kuriyama M,Shinmyozu K,Osame M,Kawahira M,Igata A

更新日期：1985-01-01 00:00:00

abstract：:Familial amyloid polyneuropathy (FAP) is a progressive systemic autosomal dominant disease caused by pathogenic mutations in the transthyretin (TTR) gene. We studied clinical, electrophysiological, histopathological, and genetic characteristics in 15 (13 late-onset and two early-onset) patients belonging to 14 familie...

journal_title：Journal of neurology

authors： Dohrn MF,Röcken C,De Bleecker JL,Martin JJ,Vorgerd M,Van den Bergh PY,Ferbert A,Hinderhofer K,Schröder JM,Weis J,Schulz JB,Claeys KG

更新日期：2013-12-01 00:00:00

abstract：:Although most patients with spinal muscular atrophy (SMA) are homozygous for deletion of the SMN1 gene, some patients bear one SMN1 copy with a subtle mutation. Detection of such an intragenic mutation may be helpful not only in confirming diagnosis but also in elucidating functional domains of the SMN protein. In thi...

journal_title：Journal of neurology

authors： Kotani T,Sutomo R,Sasongko TH,Sadewa AH,Gunadi,Minato T,Fujii E,Endo S,Lee MJ,Ayaki H,Harada Y,Matsuo M,Nishio H

更新日期：2007-05-01 00:00:00

abstract：OBJECTIVES:Sporadic (SSP) and hereditary spastic paraplegias (HSP) are clinically and genetically heterogeneous disorders, which are characterised by a slowly progressive spastic paraparesis. Initial symptoms and the rate of progression are variable even among members of the same family. Spastic paraparesis is the majo...

journal_title：Journal of neurology

authors： Klebe S,Stolze H,Kopper F,Lorenz D,Wenzelburger R,Volkmann J,Porschke H,Deuschl G

更新日期：2004-05-01 00:00:00

abstract：:Multi-modality evoked potentials and computed cranial tomography (CT) were performed in ten patients with Wilson's disease to determine if any of these studies would correlate reliably with neurologic status. While all four patients with CT abnormality had neurologic signs, two additional patients with neurologic find...

journal_title：Journal of neurology

authors： Roach ES,Ford CS,Spudis EV,Riela AR,McLean WT Jr,Gilliam J,Ball MR

更新日期：1985-01-01 00:00:00

abstract：:This observational study examined the outcome of two different therapeutic strategies in the treatment of chronic neuropathic pain by including pregabalin (PGB) as mono- or add-on therapy in one of two treatment options. Patients with a pain score of > or =4, refractory to usual care for neuropathic pain for at least ...

journal_title：Journal of neurology

authors： Lampl C,Schweiger C,Haider B,Lechner A

更新日期：2010-08-01 00:00:00

abstract：:The primary cause of neurological syndromes with antibodies against glutamic acid decarboxylase 65 (GAD65-Ab) is unknown, but genetic predisposition may exist as it is suggested by the co-occurrence in patients and their relatives of other organ-specific autoimmune diseases, notably type 1 diabetes mellitus (T1DM), an...

journal_title：Journal of neurology

authors： Muñiz-Castrillo S,Ambati A,Dubois V,Vogrig A,Joubert B,Rogemond V,Picard G,Lin L,Fabien N,Mignot E,Honnorat J

更新日期：2020-07-01 00:00:00

abstract：:It is now 10 years since the first report of mutations in the presenilin genes that were deterministic for familial autosomal dominant Alzheimer's disease. The most common of these mutations occurs in the presenilin-1 gene (PSEN1) located on chromosome 14. In the ensuing decade, more than 100 PSEN1 mutations have been...

journal_title：Journal of neurology

authors： Larner AJ,Doran M

更新日期：2006-02-01 00:00:00

abstract：:Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous No...

journal_title：Journal of neurology

authors： Tzoulis C,Denora PS,Santorelli FM,Bindoff LA

更新日期：2008-08-01 00:00:00