CSF1R mutations link POLD and HDLS as a single disease entity.

abstract：:A patient with classic (type A) Niemann-Pick disease had the usual clinical signs of failure to thrive, hepatosplenomegaly, and intellectual deterioration in the first year of life. In addition, there was striking hypotonia, areflexia, and abnormal nerve conduction velocities. Pathologically, the Schwann cells were fi...

journal_title：Neurology

authors： Gumbinas M,Larsen M,Mei Liu H

更新日期：1975-02-01 00:00:00

abstract：:In vivo proton magnetic resonance spectroscopy (MRS) may be used to quantify brainstem neuronal degeneration in ALS because of the neuronal localization of N-acetylaspartate and N-acetylaspartylglutamate, together termed NA, which are estimated with this technique. We measured the ratio of NA to creatine/phosphocreati...

journal_title：Neurology

authors： Cwik VA,Hanstock CC,Allen PS,Martin WR

更新日期：1998-01-01 00:00:00

abstract：OBJECTIVE:To examine the association of change in body mass index (BMI) with risk of Alzheimer disease (AD). METHODS:Nine hundred eighteen older Catholic clergy participating in the Religious Orders Study without dementia at baseline were studied. Outcome measures were the clinical diagnosis of AD and change in cognit...

journal_title：Neurology

authors： Buchman AS,Wilson RS,Bienias JL,Shah RC,Evans DA,Bennett DA

更新日期：2005-09-27 00:00:00

abstract：OBJECTIVE:To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A. METHODS:A combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium ...

journal_title：Neurology

authors： Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC

更新日期：2019-03-26 00:00:00

abstract：OBJECTIVE:To investigate the role of alcohol as a causal factor for intracerebral hemorrhage (ICH) and whether its effects might vary according to the pathogenic mechanisms underlying cerebral bleeding. METHODS:We performed a case-control analysis, comparing a cohort of consecutive white patients with ICH aged 55 year...

journal_title：Neurology

authors： Costa P,Grassi M,Iacoviello L,Zedde M,Marcheselli S,Silvestrelli G,DeLodovici ML,Sessa M,Zini A,Paciaroni M,Azzini C,Gamba M,Del Sette M,Toriello A,Gandolfo C,Bonifati DM,Tassi R,Cavallini A,Chiti A,Calabrò RS,Gri

更新日期：2018-07-17 00:00:00

abstract：:The objective of this study was to use high-resolution MRI techniques to determine whether children with Down syndrome exhibit decreases in hippocampal and amygdala volumes similar to those demonstrated in recent studies of adults with this condition. When corrected for overall brain volumes, amygdala volumes did not ...

journal_title：Neurology

authors： Pinter JD,Brown WE,Eliez S,Schmitt JE,Capone GT,Reiss AL

更新日期：2001-04-10 00:00:00

abstract：:We studied two unrelated patients with autosomal recessive multisystem triglyceride storage disease. Cultured fibroblasts accumulated 10 times more triglyceride than controls under glycerol or palmitate feeding. Mutant fibroblasts could not degrade accumulated triglycerides of endogenous origin, but normally degraded ...

journal_title：Neurology

authors： Di Donato S,Garavaglia B,Strisciuglio P,Borrone C,Andria G

更新日期：1988-07-01 00:00:00

abstract：:Two patients with visual agnosia underwent visual recognition and neuropsychological tests to characterize their perceptual functioning. Both had an initial "apperceptive profile" and evolved from cortical blindness. One had carbon monoxide intoxication and incidental agenesis of the splenium of the corpus callosum; t...

journal_title：Neurology

authors： Mendez MF

更新日期：1988-11-01 00:00:00

abstract：:Stuttering is an action-induced speech disorder with involuntary, audible, or silent repetitions or prolongations in the utterance of short speech elements (sounds, syllables) and words. Symptomatic treatment programs frequently have initial success; persistent benefit is variable and many patients remain disabled. St...

journal_title：Neurology

authors： Brin MF,Stewart C,Blitzer A,Diamond B

更新日期：1994-12-01 00:00:00

abstract：OBJECTIVE:Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD:Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic...

journal_title：Neurology

authors： Soehn AS,Rattay TW,Beck-Wödl S,Schäferhoff K,Monk D,Döbler-Neumann M,Hörtnagel K,Schlüter A,Ruiz M,Pujol A,Züchner S,Riess O,Schüle R,Bauer P,Schöls L

更新日期：2016-07-12 00:00:00

abstract：OBJECTIVE:To determine the prognostic value of selected biomarkers in clinically isolated syndromes (CIS) for conversion to multiple sclerosis (MS) and disability accrual. METHODS:Data were acquired from 2 CIS cohorts. The screening phase evaluated patients developing clinically definite MS (CIS-CDMS) and patients who...

journal_title：Neurology

authors： Arrambide G,Espejo C,Eixarch H,Villar LM,Alvarez-Cermeño JC,Picón C,Kuhle J,Disanto G,Kappos L,Sastre-Garriga J,Pareto D,Simon E,Comabella M,Río J,Nos C,Tur C,Castilló J,Vidal-Jordana A,Galán I,Arévalo MJ,Auger C

更新日期：2016-09-13 00:00:00

abstract：OBJECTIVE:To determine quantitative size thresholds for enlargement of the optic nerve, chiasm, and tract in children with neurofibromatosis type 1 (NF1). METHODS:Children 0.5-18.6 years of age who underwent high-resolution T1-weighted MRI were eligible for inclusion. This consisted of children with NF1 with or withou...

journal_title：Neurology

authors： Avery RA,Mansoor A,Idrees R,Biggs E,Alsharid MA,Packer RJ,Linguraru MG

更新日期：2016-06-14 00:00:00

abstract：:To learn if limb-kinetic apraxia (LKA) is associated with Parkinson disease (PD), participants with PD (on medications) and control subjects performed finger tapping (FT), measuring movement speed, and performed coin rotation (CR), measuring precise coordinated but independent finger movements and speed. There were no...

journal_title：Neurology

authors： Quencer K,Okun MS,Crucian G,Fernandez HH,Skidmore F,Heilman KM

更新日期：2007-01-09 00:00:00

abstract：:We used proton magnetic resonance spectroscopy (1H MRS) to investigate the temporal lobes of 25 patients with temporal lobe epilepsy. Spectra were obtained from 2 x 2 x 2 cm cubes in the medial region of the temporal lobe, and were analyzed on the basis of signals from N-acetylaspartate (NAA), creatine + phosphocreati...

journal_title：Neurology

authors： Connelly A,Jackson GD,Duncan JS,King MD,Gadian DG

更新日期：1994-08-01 00:00:00

abstract：BACKGROUND:New immigrants to North America, most of whom are under age 50 years, exhibit fewer risk factors for cardiovascular disease than their native-born counterparts, yet the stress of resettlement may conceivably place them at higher risk of stroke. We determined the risk of acute stroke associated with recency o...

journal_title：Neurology

authors： Saposnik G,Redelmeier DA,Lu H,Lonn E,Fuller-Thomson E,Ray JG

更新日期：2010-02-09 00:00:00

abstract：OBJECTIVE:To describe the detection frequency and clinical associations of immunoglobulin G (IgG) targeting dipeptidyl-peptidase-like protein-6 (DPPX), a regulatory subunit of neuronal Kv4.2 potassium channels. METHODS:Specimens from 20 patients evaluated on a service basis by tissue-based immunofluorescence yielded a...

journal_title：Neurology

authors： Tobin WO,Lennon VA,Komorowski L,Probst C,Clardy SL,Aksamit AJ,Appendino JP,Lucchinetti CF,Matsumoto JY,Pittock SJ,Sandroni P,Tippmann-Peikert M,Wirrell EC,McKeon A

更新日期：2014-11-11 00:00:00

abstract：:In patients with cranial dystonia, we compared the effects of central anticholinergic, peripheral anticholinergic, and placebo treatments in a double-blind crossover study. One of the nine patients who completed the study improved markedly with central anticholinergic therapy. The three treatments were indistinguishab...

journal_title：Neurology

authors： Nutt JG,Hammerstad JP,deGarmo P,Carter J

更新日期：1984-02-01 00:00:00

abstract：:We established the frequency of Horner's syndrome (HS) in 248 elective patients after coronary artery bypass surgery. Patients were evaluated neurologically pre- and post-operatively and 6 months after surgery. Nineteen patients (7.7%) developed unilateral HS postoperatively, 12 involving the left eye. The finding per...

journal_title：Neurology

authors： Barbut D,Gold JP,Heinemann MH,Hinton RB,Trifiletti RR

更新日期：1996-01-01 00:00:00

abstract：:We present a clinical and morphological study concerning a kindred with slowly progressive X-linked muscular dystrophy (Becker type). Five males were affected; one died of heart failure at age 16. Severe and early cardiac disorder is unusual in this type of muscular dystrophy, and death at such an early age had not be...

journal_title：Neurology

authors： Kuhn E,Fiehn W,Schröder JM,Assmus H,Wagner A

更新日期：1979-08-01 00:00:00

abstract：OBJECTIVE:To assess the frequency of this finding in patients with minor stroke and TIAs compared to those with stroke mimics and to evaluate the level of agreement between examiners to detect an upgoing thumb sign. METHODS:We previously reported an upgoing thumb sign as a subtle clinical finding in patients with tran...

journal_title：Neurology

authors： Hachinski V,Alsubaie R,Azarpazhooh MR

更新日期：2017-07-25 00:00:00

abstract：:Patients with symptomatic > or = 60% (n = 134), asymptomatic > or = 80% (n = 143), and asymptomatic progressive > or = 60% (n = 25) internal carotid artery stenosis underwent stenting and were followed clinically and by Doppler-assisted duplex imaging for 27.1 +/- 15.6 months. Stroke and death from stroke occurred wit...

journal_title：Neurology

authors： Bibl D,Lampl C,Biberhofer I,Kerschner K,Kypta A,Bergmann J,Kaindlstorfer A,Röper C,Yazdi K,Engleder C,Hofmann R,Deibl M,Leisch F,Ransmayr G

更新日期：2005-07-12 00:00:00

abstract：:Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients. A rapid decline i...

journal_title：Neurology

authors： Silverstein FS,Johnston MV,Hutchinson RJ,Edwards NL

更新日期：1985-06-01 00:00:00

abstract：OBJECTIVE:To determine the diagnostic accuracy and prognostic value of ¹⁸FDG-PET in a recent series of patients operated for intractable partial epilepsy associated with histologically proven Taylor-type focal cortical dysplasia (TTFCD) and negative MRI. METHODS:Of 23 consecutive patients (12 male, 7-38 years old) wit...

journal_title：Neurology

authors： Chassoux F,Rodrigo S,Semah F,Beuvon F,Landre E,Devaux B,Turak B,Mellerio C,Meder JF,Roux FX,Daumas-Duport C,Merlet P,Dulac O,Chiron C

更新日期：2010-12-14 00:00:00

abstract：OBJECTIVE:To examine the association between Miller Fisher syndrome (MFS) and antecedent Haemophilus influenzae infection. BACKGROUND:Little is known about agents in prior respiratory tract infection of MFS, whereas antecedent upper respiratory symptoms are frequent. H. influenzae is a major pathogen that can cause hu...

journal_title：Neurology

authors： Koga M,Yuki N,Tai T,Hirata K

更新日期：2001-08-28 00:00:00

abstract：OBJECTIVES:To investigate patient susceptibility to neuropsychiatric symptoms in the context of progression of more classic motor symptoms in amyotrophic lateral sclerosis (ALS) and to examine the impact of neuropsychiatric symptoms on survival. METHODS:The study cohort consisted of 219 patients with ALS (limb onset =...

journal_title：Neurology

authors： Mioshi E,Caga J,Lillo P,Hsieh S,Ramsey E,Devenney E,Hornberger M,Hodges JR,Kiernan MC

更新日期：2014-01-14 00:00:00

abstract：:Moderate hypothermia (33 degrees C) was induced for 7 and 3 days, respectively, in two patients with multiple sclerosis. In both patients, striking improvement of clinical signs persisted throughout the period of cooling, indicating the potential for sustained reversal of the neurologic deficit. Hypothermia may aid ma...

journal_title：Neurology

authors： Symington GR,Mackay IR,Currie TT

更新日期：1977-03-01 00:00:00

abstract：:The incidence of MS in the Orkney Islands has been updated from 1941 to September 21, 1983. Since 1965, MS incidence rates have fallen significantly when compared with those for 1941 to 1964. Alterations in age-specific prevalence, mean duration of illness, and mean age of the MS population are consistent with the dec...

journal_title：Neurology

authors： Cook SD,Cromarty JI,Tapp W,Poskanzer D,Walker JD,Dowling PC

更新日期：1985-04-01 00:00:00

abstract：BACKGROUND:The authors previously reported on the development of thyroid dysfunction and autoimmunity during 1-year treatment of patients with MS with interferon-beta 1b (IFN beta-1b). OBJECTIVE:To evaluate the evolution of incident thyroid disease and the possible development of more thyroid disease during longer ter...

journal_title：Neurology

authors： Monzani F,Caraccio N,Casolaro A,Lombardo F,Moscato G,Murri L,Ferrannini E,Meucci G

更新日期：2000-08-22 00:00:00

abstract：:In six patients with cryptococcal meningitis, diagnosis was made by routine cytologic examination of cerebrospinal fluid (CSF). A seventh patient had a false-positive cryptococcal antigen titer, and no organism was seen on SCF examination. The patient had herpes simplex encephalitis on brain biopsy. Cytologic examinat...

journal_title：Neurology

authors： Bernad PG,Szyfelbein WM,Weiss HD,Richardson EP Jr

更新日期：1980-01-01 00:00:00

abstract：:A patient who abused multiple drugs developed a rapidly progressive mononeuropathy multiplex, which appeared to respond to corticosteroid therapy with partial resolution. Intravenous methamphetamine had been used almost exclusively from the fourth month prior to the onset of symptoms. Biopsy material revealed a necrot...

journal_title：Neurology

authors： Stafford CR,Bogdanoff BM,Green L,Spector HB

更新日期：1975-06-01 00:00:00