Acetyl-dl-leucine in Niemann-Pick type C: A case series.

abstract：OBJECTIVE:To evaluate the clinical, electrophysiologic, and treatment outcome features of orthostatic tremor (OT) in a large case series. METHODS:We performed medical record review of 184 patients who met clinical and electrodiagnostic criteria for OT from 1976 to 2013 at the Mayo Clinic. Demographic, clinical, electr...

journal_title：Neurology

authors： Hassan A,Ahlskog JE,Matsumoto JY,Milber JM,Bower JH,Wilkinson JR

更新日期：2016-02-02 00:00:00

abstract：:CSF lymphocyte subpopulations of eight patients with neurosarcoidosis were examined. CSF or CT was abnormal in all. The CSF T4/T8 (helper/suppressor) ratio was elevated at 6.8 and 7.6 in two patients; in one, there were only CSF T4 cells. The ratio was normal in five patients. ...

journal_title：Neurology

authors： Stern BJ,Griffin DE,Luke RA,Krumholz A,Johns CJ

更新日期：1987-05-01 00:00:00

abstract：:We describe a 78-year-old man with right hemiballism as the presenting symptom of a metastatic occult adenocarcinoma of the lung. CT demonstrated two contrast-enhancing lesions: one in the left subthalamic region and the other in the left parietal region. Metastatic tumor was confirmed at autopsy. ...

journal_title：Neurology

authors： Glass JP,Jankovic J,Borit A

更新日期：1984-02-01 00:00:00

abstract：OBJECTIVE:There is only limited evidence from adequately controlled clinical trials to support high-dose methylprednisolone therapy for attacks of multiple sclerosis (MS) and none supporting oral administration. We assessed the effect of oral high-dose methylprednisolone therapy in attacks of MS. METHODS:Twenty-five p...

journal_title：Neurology

authors： Sellebjerg F,Frederiksen JL,Nielsen PM,Olesen J

更新日期：1998-08-01 00:00:00

abstract：:Two hundred thirty-nine patients with Bell palsy were randomly distributed into prednisone-treated and control groups. Patients were followed until complete recovery or for 1 year. In the steroid-treated and control groups, respectively, incomplete recovery of facial strength occurred in 12 percent and 20 percent; mot...

journal_title：Neurology

authors： Wolf SM,Wagner JH,Davidson S,Forsythe A

更新日期：1978-02-01 00:00:00

abstract：BACKGROUND:Migraine and headache in general have been associated with subsequent risk of stroke, primarily in retrospective case-control studies. Prospective data evaluating the association between specific headache forms and stroke are sparse. METHODS:A prospective cohort study was conducted among 39,754 US health pr...

journal_title：Neurology

authors： Kurth T,Slomke MA,Kase CS,Cook NR,Lee IM,Gaziano JM,Diener HC,Buring JE

更新日期：2005-03-22 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is a neurodegenerative disease associated with marked impairments in health-related quality of life (HRQoL). Although standard clinical end points such as the Expanded Disability Status Scale and annualized relapse rate remain useful in assessing MS activity and severity, these measur...

journal_title：Neurology

authors： Miller D,Rudick RA,Hutchinson M

更新日期：2010-04-27 00:00:00

abstract：:We studied lymphocyte subsets and major histocompatibility complex (MHC) class II antigens in frozen brain tissues from three patients with subacute sclerosing panencephalitis (SSPE) using immunocytochemical techniques. Perivascular cuffs consisted predominantly of T cells and MHC class II-positive cells. In the paren...

journal_title：Neurology

authors： Nagano I,Nakamura S,Yoshioka M,Kogure K

更新日期：1991-10-01 00:00:00

abstract：:There is a widely held belief that most patients presenting with senile chorea have late-onset Huntington's disease (HD) with an unknown family history. We measured CAG trinucleotide repeat expansion in the HD gene in four patients with a clinical presentation of senile chorea and found that CAG repetition lengths wer...

journal_title：Neurology

authors： Shinotoh H,Calne DB,Snow B,Hayward M,Kremer B,Theilmann J,Hayden MR

更新日期：1994-11-01 00:00:00

abstract：:Using transcranial Doppler (TCD) ultrasonography in patients with high-grade (> or = 70%) internal carotid artery (ICA) stenosis, we examined the relation between the rate of TCD-detected silent microembolism of the ipsilateral middle cerebral artery and a history of recent (< 121 days) ischemic symptoms attributable ...

journal_title：Neurology

authors： Siebler M,Kleinschmidt A,Sitzer M,Steinmetz H,Freund HJ

更新日期：1994-04-01 00:00:00

abstract：:We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years. The mean +/- SD duration of th...

journal_title：Neurology

authors： Rainero I,Pinessi L,Tsuda T,Vignocchi MG,Vaula G,Calvi L,Cerrato P,Rossi B,Bergamini L,McLachlan DR

更新日期：1994-02-01 00:00:00

abstract：:We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high l...

journal_title：Neurology

authors： Graf WD,Oleinik OE,Jack RM,Weiss AH,Johnson JL

更新日期：1998-09-01 00:00:00

abstract：OBJECTIVE:To report 5-year outcomes from the subthalamic nucleus (STN) deep brain stimulation (DBS) in early-stage Parkinson disease (PD) pilot clinical trial. METHODS:The pilot was a prospective, single-blind clinical trial that randomized patients with early-stage PD (Hoehn & Yahr II off medications) to receive bila...

journal_title：Neurology

authors： Hacker ML,Turchan M,Heusinkveld LE,Currie AD,Millan SH,Molinari AL,Konrad PE,Davis TL,Phibbs FT,Hedera P,Cannard KR,Wang L,Charles D

更新日期：2020-07-28 00:00:00

abstract：OBJECTIVE:To determine the associations between amyloid-PET, tau-PET, and atrophy with the behavioral/dysexecutive presentation of Alzheimer disease (AD), how these differ from amnestic AD, and how they correlate to clinical symptoms. METHODS:We assessed 15 patients with behavioral/dysexecutive AD recruited from a ter...

journal_title：Neurology

authors： Therriault J,Pascoal TA,Savard M,Benedet AL,Chamoun M,Tissot C,Lussier F,Kang MS,Thomas E,Terada T,Rej S,Massarweh G,Nasreddine Z,Vitali P,Soucy JP,Saha-Chaudhuri P,Gauthier S,Rosa-Neto P

更新日期：2021-01-05 00:00:00

abstract：BACKGROUND:Mutations in the early growth response 2 (EGR2) gene have recently been found in patients with congenital hypomyelinating neuropathy and Charcot-Marie-Tooth type 1 (CMT1) disease. OBJECTIVE:To determine the frequency of EGR2 mutations in patients with a diagnosis of CMT1, Dejerine-Sottas syndrome (DSS), or ...

journal_title：Neurology

authors： Timmerman V,De Jonghe P,Ceuterick C,De Vriendt E,Löfgren A,Nelis E,Warner LE,Lupski JR,Martin JJ,Van Broeckhoven C

更新日期：1999-06-10 00:00:00

abstract：:Transcranial Doppler examinations (TCD) of 24 brain-dead adult patients demonstrated persistent movement of blood within the middle cerebral arteries in 21. The characteristic pattern of Doppler shift frequencies, seen in 14, was a sharply contoured, brief anterograde systolic envelope with reversed diastolic flow. Fi...

journal_title：Neurology

authors： Ropper AH,Kehne SM,Wechsler L

更新日期：1987-11-01 00:00:00

abstract：:Pathologic changes and distribution of lesions of the spinal cord were studied in 16 patients who suffered from "anoxic" episodes. The lesions were symmetrical and limited to the gray matter. The vulnerability of the spinal cord was most marked in the lumbosacral region, although almost every nucleus throughout the sp...

journal_title：Neurology

authors： Azzarelli B,Roessmann U

更新日期：1977-11-01 00:00:00

abstract：BACKGROUND:Deep brain stimulation of the internal global pallidus (GPi) and the subthalamic nucleus (STN) has become a treatment alternative in advanced PD. Although the effects of GPi stimulation have been examined recently, little is known about STN stimulation effects on motor cortex excitability. METHODS:The effec...

journal_title：Neurology

authors： Däuper J,Peschel T,Schrader C,Kohlmetz C,Joppich G,Nager W,Dengler R,Rollnik JD

更新日期：2002-09-10 00:00:00

abstract：OBJECTIVE:This study was conducted to determine the relationship of frontal lobe cortical thickness and basal ganglia volumes to measures of cognition in adults with sickle cell anemia (SCA). METHODS:Participants included 120 adults with SCA with no history of neurologic dysfunction and 33 healthy controls (HCs). Part...

journal_title：Neurology

authors： Mackin RS,Insel P,Truran D,Vichinsky EP,Neumayr LD,Armstrong FD,Gold JI,Kesler K,Brewer J,Weiner MW,Neuropsychological Dysfunction and Neuroimaging Adult Sickle Cell Anemia Study Group.

更新日期：2014-03-11 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：OBJECTIVES:Determine the frequency of and the predictive factors for abnormal ocular fundus findings among emergency department (ED) headache patients. METHODS:Cross-sectional study of prospectively enrolled adult patients presenting to our ED with a chief complaint of headache. Ocular fundus photographs were obtained...

journal_title：Neurology

authors： Thulasi P,Fraser CL,Biousse V,Wright DW,Newman NJ,Bruce BB

更新日期：2013-01-29 00:00:00

abstract：:The authors correlated neurologic features of rostral lateral pontine infarct (rLPI) with lesion location on MRI. rLPI is a motor-sensory stroke presenting as crural monoparesis or crural dominant hemiparesis and segmental superficial or deep sensory disturbances. The dorsolateral pontine base causes crural paresis wi...

journal_title：Neurology

authors： Kataoka S,Miaki M,Saiki M,Saiki S,Yamaya Y,Hori A,Hirose G

更新日期：2003-07-08 00:00:00

abstract：:This study concerns the expression of Met-enkephalin (MEnk) in the striatum and the external segment of the globus pallidus proper (GPe) in normal controls, idiopathic Parkinson's disease (PD), and striatonigral degeneration (SND). For this purpose, we developed a sensitive immunoperoxidase technique to visualize MEnk...

journal_title：Neurology

authors： Goto S,Hirano A,Matsumoto S

更新日期：1990-07-01 00:00:00

abstract：:The relationship between multiple sclerosis (MS) and primary Sjögren's syndrome (PSS) is ambiguous; it was suggested that some patients diagnosed with MS may instead have PSS. In a recent epidemiologic study, the prevalence of PSS was 2.7% in southern Sweden. We randomly selected 30 patients with definite MS from our ...

journal_title：Neurology

authors： Sandberg-Wollheim M,Axéll T,Hansen BU,Henricsson V,Ingesson E,Jacobsson L,Larsson A,Lieberkind K,Manthorpe R

更新日期：1992-04-01 00:00:00

abstract：:Genetic factors clearly cause Lewy-body Parkinson's disease (PD) in a subset of autosomal-dominant families. However, most cases of PD are sporadic. The two most likely models of four discussed for sporadic PD are the reduced penetrance model and the multifactorial model. Sporadic PD is likely to be caused by the comb...

journal_title：Neurology

authors： Johnson WG

更新日期：1991-05-01 00:00:00

abstract：OBJECTIVES:To correlate the two types of early ischemic change on noncontrast CT (NCCT) (parenchymal hypoattenuation [PH] and isolated focal swelling [IFS]) with concurrent assessment of cerebral perfusion and to compare their rates of progression to infarction. METHODS:We assessed cortical regions on NCCT for early i...

journal_title：Neurology

authors： Parsons MW,Pepper EM,Bateman GA,Wang Y,Levi CR

更新日期：2007-03-06 00:00:00

abstract：:About one-third of patients with acoustic tumor (AT) initially seek medical attention for nonaudiologic complaints. The nonspecific early symptoms of AT require the inclusion of AT in many neurologic differential diagnoses. Advances in electrophysiologic and radiographic tests have allowed earlier diagnosis of AT at a...

journal_title：Neurology

authors： Hart RG,Gardner DP,Howieson J

更新日期：1983-02-01 00:00:00

abstract：BACKGROUND:Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare multisystem disorder associated with plasma cell dyscrasia. There is increasing evidence that high-dose chemotherapy with autologous peripheral blood stem cell transplantation (Auto-PBSCT) is an efficacious t...

journal_title：Neurology

authors： Kuwabara S,Misawa S,Kanai K,Suzuki Y,Kikkawa Y,Sawai S,Hattori T,Nishimura M,Nakaseko C

更新日期：2008-11-18 00:00:00

abstract：OBJECTIVE:To assess cerebrovascular reactivity in response to a visual task in participants with cerebral amyloid angiopathy (CAA), Alzheimer disease (AD), and mild cognitive impairment (MCI) using fMRI. METHODS:This prospective cohort study included 40 patients with CAA, 22 with AD, 27 with MCI, and 25 healthy contro...

journal_title：Neurology

authors： Switzer AR,Cheema I,McCreary CR,Zwiers A,Charlton A,Alvarez-Veronesi A,Sekhon R,Zerna C,Stafford RB,Frayne R,Goodyear BG,Smith EE

更新日期：2020-09-08 00:00:00

abstract：BACKGROUND:In the late 19th century, a man with a psychogenic movement disorder was evaluated by many of the Philadelphia neurologists associated with Silas Weir Mitchell. In 1885, prior to the development of movie cameras or projectors, the patient was photographed by pioneering photographer Eadweard Muybridge, in col...

journal_title：Neurology

authors： Lanska DJ

更新日期：2015-01-27 00:00:00