Treatable neurotransmitter deficiency in mild phenylketonuria.

abstract：OBJECTIVE:To determine the frequency of Lewy bodies (LB) in progressive supranuclear palsy (PSP). BACKGROUND:LB are characteristic of PD, but are also found in normal controls and in other neurodegenerative diseases, especially AD. METHOD:The authors evaluated the brains of 72 consecutive cases of pathologically conf...

journal_title：Neurology

authors： Tsuboi Y,Ahlskog JE,Apaydin H,Parisi JE,Dickson DW

更新日期：2001-11-13 00:00:00

abstract：OBJECTIVE:We investigated the prevalence of mild cognitive impairment (MCI) in Olmsted County, MN, using in-person evaluations and published criteria. METHODS:We evaluated an age- and sex-stratified random sample of Olmsted County residents who were 70-89 years old on October 1, 2004, using the Clinical Dementia Ratin...

journal_title：Neurology

authors： Petersen RC,Roberts RO,Knopman DS,Geda YE,Cha RH,Pankratz VS,Boeve BF,Tangalos EG,Ivnik RJ,Rocca WA

更新日期：2010-09-07 00:00:00

abstract：:Since the introduction of computed tomography (CT), there have been numerous reports of brain abscess treated successfully without surgery. Because pathologic confirmation was lacking in these patients, diagnosis was based on CT abnormalities, usually ring enhancement. However, our recent clinical experience and the e...

journal_title：Neurology

authors： Dobkin JF,Healton EB,Dickinson PC,Brust JC

更新日期：1984-02-01 00:00:00

abstract：:We examined six patients with an abrupt change in behavior after infarction involving the inferior genu of the internal capsule. The acute syndrome featured fluctuating alertness, inattention, memory loss, apathy, abulia, and psychomotor retardation, suggesting frontal lobe dysfunction. Contralateral hemiparesis and d...

journal_title：Neurology

authors： Tatemichi TK,Desmond DW,Prohovnik I,Cross DT,Gropen TI,Mohr JP,Stern Y

更新日期：1992-10-01 00:00:00

abstract：BACKGROUND:Charcot Marie Tooth type 1a (CMT1a) is a primarily demyelinating neuropathy, characterized by slowly progressive muscle weakness, atrophy, and sensory loss, and is most pronounced in both feet and hands. There is increasing evidence that muscle weakness is determined by motor axonal dysfunction. OBJECTIVE:T...

journal_title：Neurology

authors： Videler AJ,van Dijk JP,Beelen A,de Visser M,Nollet F,van Schaik IN

更新日期：2008-10-14 00:00:00

abstract：:We report the clinical and neuroimaging findings of a mother and daughter with seizure disorders and band heterotopias seen on magnetic resonance imaging studies. These clinicoradiologic findings simulate those for a diagnosis of tuberous sclerosis complex. Clinicians should be aware of this migrational anomaly and it...

journal_title：Neurology

authors： DiMario FJ Jr,Cobb RJ,Ramsby GR,Leicher C

更新日期：1993-07-01 00:00:00

abstract：:A 12-year-old girl developed simple partial motor and sensory seizures due to a right perirolandic astrocytoma. Subdural EEG recording and functional stimulation disclosed close correlation between EEG-clinical manifestations of focal seizures and functional responses to cortical stimulation. This case supports the id...

journal_title：Neurology

authors： Arroyo S,Krauss GL,Lesser RP,Gordon B,Hart J Jr,Carson BS,Uematsu S

更新日期：1992-03-01 00:00:00

abstract：OBJECTIVE:To determine whether patients with Alzheimer disease (AD) compensate for neuropathologic changes when performing a mnemonic task by recruiting 1) the same brain regions as age-matched, healthy controls, but to a greater extent; 2) additional brain regions not activated by controls; or 3) both. METHODS:Twelve...

journal_title：Neurology

authors： Gould RL,Arroyo B,Brown RG,Owen AM,Bullmore ET,Howard RJ

更新日期：2006-09-26 00:00:00

abstract：BACKGROUND:Quantitative head impulse test (HIT) measures the gain of the angular vestibulo-ocular reflex (VOR) during head rotation as the ratio of eye to head acceleration. Bedside HIT identifies subsequent catch-up saccades after the head rotation as indirect signs of VOR deficit. OBJECTIVE:To determine the VOR defi...

journal_title：Neurology

authors： Weber KP,Aw ST,Todd MJ,McGarvie LA,Curthoys IS,Halmagyi GM

更新日期：2008-02-05 00:00:00

abstract：:We describe the MR images of a patient with juvenile ALS. MRI of the brain showed bilateral hyperintensities along the corticospinal tracts extending from the corona radiata to the brainstem on T2-weighted images. These findings should be differentiated from the slight hyperintensities seen in the posterior limbs of t...

journal_title：Neurology

authors： Midani H,Truwit CL,Parry GJ

更新日期：1998-06-01 00:00:00

abstract：BACKGROUND:Several lines of evidence suggest that inflammatory mechanisms contribute to AD. OBJECTIVE:To examine whether several markers of inflammation are associated with cognitive decline in African-American and white well-functioning elders. METHODS:The authors studied 3,031 African-American and white men and wom...

journal_title：Neurology

authors： Yaffe K,Lindquist K,Penninx BW,Simonsick EM,Pahor M,Kritchevsky S,Launer L,Kuller L,Rubin S,Harris T

更新日期：2003-07-08 00:00:00

abstract：:In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004). In the CMT2 patients, RLS was associated with positive sensory symptoms (10/10 versus 10/17; p = 0.026). T...

journal_title：Neurology

authors： Gemignani F,Marbini A,Di Giovanni G,Salih S,Terzano MG

更新日期：1999-03-23 00:00:00

abstract：OBJECTIVE:To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene. METHODS:We prospectively studied 41 consecutive patients from 22 families with documented mutations of the SGCE gene. The patients had a standardized interview, neurologic examination, and de...

journal_title：Neurology

authors： Roze E,Apartis E,Clot F,Dorison N,Thobois S,Guyant-Marechal L,Tranchant C,Damier P,Doummar D,Bahi-Buisson N,André-Obadia N,Maltete D,Echaniz-Laguna A,Pereon Y,Beaugendre Y,Dupont S,De Greslan T,Jedynak CP,Ponsot G,D

更新日期：2008-03-25 00:00:00

abstract：:I studied vimentin and desmin immunoreactivities in the skeletal muscle of 30 human fetuses and children ranging from 8 weeks' gestation to 2 years of age, and in 45 infants and children and five adults with developmental neuromuscular diseases. Acridine orange-RNA fluorescence also identified regenerating myofibers i...

journal_title：Neurology

authors： Sarnat HB

更新日期：1992-08-01 00:00:00

abstract：:Ten patients with refractory temporal lobe epilepsy performed a word-position association learning task every 24 hours during video EEG monitoring. On 55 occasions recall performance was tested 30 minutes and 24 hours after the initial learning phase. Patients with left- but not right-sided temporal lobe epilepsy exhi...

journal_title：Neurology

authors： Jokeit H,Daamen M,Zang H,Janszky J,Ebner A

更新日期：2001-07-10 00:00:00

abstract：:Apraxia is the loss of the ability to perform learned skilled movements correctly. In right-handers, apraxia and aphasia are most frequently associated with left-hemisphere lesions. When they are dissociated, however, aphasia is more common in the absence of apraxia than vice versa. There are two hypotheses that can a...

journal_title：Neurology

authors： Foundas AL,Henchey R,Gilmore RL,Fennell EB,Heilman KM

更新日期：1995-07-01 00:00:00

abstract：OBJECTIVE:To validate a neuropsychological algorithm for dementia diagnosis. METHODS:We developed a neuropsychological algorithm in a sample of 1,023 elderly residents of Cache County, UT. We compared algorithmic and clinical dementia diagnoses both based on DSM-III-R criteria. The algorithm diagnosed dementia when th...

journal_title：Neurology

authors： Tschanz JT,Welsh-Bohmer KA,Skoog I,West N,Norton MC,Wyse BW,Nickles R,Breitner JC

更新日期：2000-03-28 00:00:00

abstract：OBJECTIVE:The purpose of this cross-sectional study was to determine the prevalence and potential significance of stroke symptoms among end-stage renal disease (ESRD) patients without a prior diagnosis of stroke or TIA. METHODS:We enrolled 148 participants with ESRD from 5 clinics. Stroke symptoms and functional statu...

journal_title：Neurology

authors： Kurella Tamura M,Meyer JB,Saxena AB,Huh JW,Wadley VG,Schiller B

更新日期：2012-09-04 00:00:00

abstract：:We determined the horizontal and vertical components of brain displacement on coronal MRIs in 10 patients with acute supratentorial masses. The vertical distances from the superior sagittal sinus to the pontomesencephalic junction (PMJ) and from the vertical midline of the brain to the PMJ did not differ from measurem...

journal_title：Neurology

authors： Ropper AH

更新日期：1989-05-01 00:00:00

abstract：OBJECTIVE:To characterize the nature and degree of cognitive morbidity in patients with chronic temporal lobe epilepsy compared with healthy control subjects, determine the association between the duration of epilepsy and cognitive morbidity, and ascertain whether there are factors that moderate the association between...

journal_title：Neurology

authors： Oyegbile TO,Dow C,Jones J,Bell B,Rutecki P,Sheth R,Seidenberg M,Hermann BP

更新日期：2004-05-25 00:00:00

abstract：OBJECTIVE:To explore alterations in gray matter volume in patients with functional movement disorders. METHODS:We obtained T1-weighted MRI on 48 patients with clinically definite functional movement disorders, a subset of functional neurologic symptom disorder characterized by abnormal involuntary movements, and on 55...

journal_title：Neurology

authors： Maurer CW,LaFaver K,Limachia GS,Capitan G,Ameli R,Sinclair S,Epstein SA,Hallett M,Horovitz SG

更新日期：2018-11-13 00:00:00

abstract：:We prospectively evaluated 84 consecutive adult patients with chronic liver disease before and after liver transplantation to define the type and frequency of post-transplant neurologic complications, and to assess possible pretransplant and operative variables associated with in-hospital CNS complications. There were...

journal_title：Neurology

authors： Pujol A,Graus F,Rimola A,Beltrán J,Garcia-Valdecasas JC,Navasa M,Grande L,Galofré J,Visa J,Rodés J

更新日期：1994-07-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a common neurologic disorder whose prevalence has been estimated at 4 to 10% of the general population. Although its pathophysiology remains unknown, dopaminergic mechanisms are believed to play a central role. Furthermore, dopaminergic drugs have shown therapeutic efficacy in various l...

journal_title：Neurology

authors： Garcia-Borreguero D,Odin P,Serrano C

更新日期：2003-09-23 00:00:00

abstract：:We report the cases of 5 patients from 2 sibships with the "adult" or chronic form of GM2 gangliosidosis and 2 patients from another sibship with the juvenile form. We demonstrated hexosaminidase A deficiency in all cases but in 1 sibship the enzymatic profile was identical to that in Tay-Sachs disease, whereas in the...

journal_title：Neurology

authors： Specola N,Vanier MT,Goutières F,Mikol J,Aicardi J

更新日期：1990-01-01 00:00:00

abstract：:The authors assessed the referral pattern and outcome in patients with Guillain-Barré syndrome (n = 266) after the introduction of intravenous immunoglobulin (IVIg). Fewer patients were transferred from small to large hospitals after the introduction of IVIg (p = 0.05). This did not result in a worse outcome in patien...

journal_title：Neurology

authors： Van Koningsveld R,Van Doorn PA,Schmitz PI,Van der Meché FG

更新日期：2001-02-27 00:00:00

abstract：:The authors performed serial transcranial Doppler (TCD) and carbon dioxide reactivity (CO2R) testing in 20 aneurysmal subarachnoid hemorrhage patients to determine whether impaired cerebrovascular reactivity was associated with symptomatic vasospasm. Symptomatic vasospasm occurred in 9 of 14 patients with abnormal CO2...

journal_title：Neurology

authors： Frontera JA,Rundek T,Schmidt JM,Claassen J,Parra A,Wartenberg KE,Temes RE,Mayer SA,Mohr JP,Marshall RS

更新日期：2006-03-14 00:00:00

abstract：OBJECTIVE:To identify the disease-causing gene of a family with upper limb predominant, slowly progressive amyotrophic lateral sclerosis (ALS), which was diagnosed as flail arm syndrome (FAS). METHODS:After causation of 24 known ALS genes was excluded by targeted next-generation sequencing, whole-exome sequencing was ...

journal_title：Neurology

authors： Liu Q,Shu S,Wang RR,Liu F,Cui B,Guo XN,Lu CX,Li XG,Liu MS,Peng B,Cui LY,Zhang X

更新日期：2016-10-25 00:00:00

abstract：:Thyrotropin-releasing hormone has been reported to increase strength in patients with amyotrophic lateral sclerosis (ALS). DN-1417 is an analog of thyrotropin-releasing hormone, which has less endocrinologic activity, but more anterior horn cell stimulating effect (with no "autorefractory state"). However, 2 mg DN-141...

journal_title：Neurology

authors： Hawley RJ,Kratz R,Goodman RR,McCutchen CB,Sirdofsky M,Hanson PA

更新日期：1987-04-01 00:00:00

abstract：:We followed 21 patients with sensory neuronopathy without evidence of cancer for up to 23 years. All were seronegative for type 1 antineuronal nuclear antibodies (ANNA-1, also called "anti-Hu"). We additionally studied 67 seropositive patients with sensory neuropathy or a related neurologic syndrome. Ninety-one percen...

journal_title：Neurology

authors： Chalk CH,Lennon VA,Stevens JC,Windebank AJ

更新日期：1993-11-01 00:00:00

abstract：:To test possible biochemical mechanisms by which L-tryptophan may reverse mental side effects of levodopa therapy in parkinsonism we administered levodopa, 250 mg per kilogram intraperitoneally, alone and with L-tryptophan, 500 mg per kilogram intraperitoneally, to rats pretreated with the peripheral dopa decarboxylas...

journal_title：Neurology

authors： Fahn S,Snider S,Prasad AL,Lane E,Makadon H

更新日期：1975-09-01 00:00:00