A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

abstract：:A subset of human immunodeficiency virus (HIV)-infected patients develop persistent CD8 hyperlymphocytosis and a Sjogren's syndrome-like syndrome associated with multivisceral CD8 T-cell infiltration, known as the diffuse infiltrative lymphocytosis syndrome (DILS). Patients with DILS tend to have higher CD4 cell count...

journal_title：Annals of neurology

authors： Moulignier A,Authier FJ,Baudrimont M,Pialoux G,Belec L,Polivka M,Clair B,Gray F,Mikol J,Gherardi RK

更新日期：1997-04-01 00:00:00

abstract：:Acute Epstein-Barr virus (EBV) infection of the central nervous system (CNS) is associated with meningoencephalitis and other neurological syndromes and with CNS lymphomas (CNSLs). Diagnosis is based on serological studies and more recently on detection of EBV DNA in cerebrospinal fluid (CSF) by polymerase chain react...

journal_title：Annals of neurology

authors： Weinberg A,Li S,Palmer M,Tyler KL

更新日期：2002-11-01 00:00:00

abstract：:beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseas...

journal_title：Annals of neurology

authors： Salih MA,Sunada Y,Al-Nasser M,Ozo CO,Al-Turaiki MH,Akbar M,Campbell KP

更新日期：1996-12-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and safety of BHT-3009 in relapsing-remitting multiple sclerosis (MS) and to confirm that BHT-3009 causes immune tolerance. METHODS:BHT-3009 is a tolerizing DNA vaccine for MS, encoding full-length human myelin basic protein. Relapsing-remitting MS patients were randomized 1:1:1 into...

journal_title：Annals of neurology

authors： Garren H,Robinson WH,Krasulová E,Havrdová E,Nadj C,Selmaj K,Losy J,Nadj I,Radue EW,Kidd BA,Gianettoni J,Tersini K,Utz PJ,Valone F,Steinman L,BHT-3009 Study Group.

更新日期：2008-05-01 00:00:00

abstract：:Because the symptomatic treatments for multiple sclerosis (MS) are limited, new approaches have been sought. Anatomical studies of MS lesions show a relative preservation of axons, and clinical studies suggest that some of the neurological impairment in patients with MS is physiological. Electrophysiological studies s...

journal_title：Annals of neurology

authors： Bever CT Jr

更新日期：1994-01-01 00:00:00

abstract：:Analysis of the pathophysiology of hypokalemic paralysis, as it occurs in barium poisoning, chronic potassium deficiency, and thyrotoxicosis, suggests that these disorders may have a similar mechanism. An increased ratio of muscle sodium permeability to potassium permeability reduces the ionic diffusion potential, whi...

journal_title：Annals of neurology

authors： Layzer RB

更新日期：1982-06-01 00:00:00

abstract：:We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe structures in patients with temporal lobe epilepsy [correction]. Uptake of 18F-fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory ...

journal_title：Annals of neurology

authors： Weintrob DL,Saling MM,Berkovic SF,Berlangieri SU,Reutens DC

更新日期：2002-04-01 00:00:00

abstract：:This review discusses the etiology and pathogenesis of Parkinson's disease (PD). Mitochondrial respiratory failure and oxidative stress appear to be two major contributors to nigral neuronal death in PD. Complex I deficiency has been reported by several groups and appears to be one of the basic abnormalities responsib...

journal_title：Annals of neurology

authors： Mizuno Y,Yoshino H,Ikebe S,Hattori N,Kobayashi T,Shimoda-Matsubayashi S,Matsumine H,Kondo T

更新日期：1998-09-01 00:00:00

abstract：OBJECTIVE: METHODS:We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand. RESULTS:Analyzing human Rho zero cells we could identify three subcomplexes of ATP synthase: F1 catalytic domain, F1 domain with bound natural IF1 ...

journal_title：Annals of neurology

authors： Carrozzo R,Wittig I,Santorelli FM,Bertini E,Hofmann S,Brandt U,Schägger H

更新日期：2006-02-01 00:00:00

abstract：OBJECTIVE:Multiple sclerosis (MS) is characterized by demyelination centered around cerebral veins. Recent studies suggested this topographic pattern may be caused by venous congestion, a condition termed chronic cerebrospinal venous insufficiency (CCSVI). Published sonographic criteria of CCSVI include reflux in the d...

journal_title：Annals of neurology

authors： Doepp F,Paul F,Valdueza JM,Schmierer K,Schreiber SJ

更新日期：2010-08-01 00:00:00

abstract：:Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mi...

journal_title：Annals of neurology

authors： Kuzniecky R,Berkovic S,Andermann F,Melanson D,Olivier A,Robitaille Y

更新日期：1988-04-01 00:00:00

abstract：:Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...

journal_title：Annals of neurology

authors： Obici L,Demarchi A,de Rosa G,Bellotti V,Marciano S,Donadei S,Arbustini E,Palladini G,Diegoli M,Genovese E,Ferrari G,Coverlizza S,Merlini G

更新日期：2005-10-01 00:00:00

abstract：:A human immunodeficiency virus (HIV-I) was isolated from the brain of a patient with progressive dementia but no obvious immunosuppression. This isolate, designated as HIV-IBR, was molecularly cloned and sequenced, and its long terminal repeat (LTR) and envelope sequences were compared with those of other HIV isolates...

journal_title：Annals of neurology

authors： Anand R,Srinivasan A,Gardner MB,Luciw PA,Dandekar S

更新日期：1988-01-01 00:00:00

abstract：:The nucleus basalis of Meynert, which supplies diffuse cholinergic fibers to the cerebral neocortex, was investigated in two cases of parkinsonism-dementia complex of Guam (PDG). The nucleus basalis of the two PDG patients showed extensive neuron loss when compared with age-matched non-Guamanian controls, suggesting t...

journal_title：Annals of neurology

authors： Nakano I,Hirano A

更新日期：1983-01-01 00:00:00

abstract：:The rate of local cerebral glucose utilization was determined for quantification of energy metabolism in macrostructures of the sensorimotor system during propagation of focal motor seizures in 24-month-old monkeys. The rate was measured in 4 control animals and in 4 monkeys each with seizures limited to the contralat...

journal_title：Annals of neurology

authors： Caveness WF,Kato M,Malamut BL,Hosokawa S,Wakisaka S,O'Neill RR

更新日期：1980-03-01 00:00:00

abstract：:A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....

journal_title：Annals of neurology

authors： Inoue K,Shilo K,Boerkoel CF,Crowe C,Sawady J,Lupski JR,Agamanolis DP

更新日期：2002-12-01 00:00:00

abstract：:Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain norm...

journal_title：Annals of neurology

authors： ØRngreen MC,Nørgaard MG,Sacchetti M,van Engelen BG,Vissing J

更新日期：2004-08-01 00:00:00

abstract：:Benzodiazepines can regulate neoplastic growth and immune response through specific peripheral benzodiazepine receptors. We investigated the presence of peripheral and classic central benzodiazepine receptors as well as diazepam-binding inhibitor, an endogenous ligand of both types of receptors, in different human cer...

journal_title：Annals of neurology

authors： Ferrarese C,Appollonio I,Frigo M,Gaini SM,Piolti R,Frattola L

更新日期：1989-10-01 00:00:00

abstract：OBJECTIVE:Clinical outcomes in multiple sclerosis (MS) are highly variable. We aim to determine the long-term clinical outcomes in MS, and to identify early prognostic features of these outcomes. METHODS:One hundred thirty-two people presenting with a clinically isolated syndrome were prospectively recruited between 1...

journal_title：Annals of neurology

authors： Chung KK,Altmann D,Barkhof F,Miszkiel K,Brex PA,O'Riordan J,Ebner M,Prados F,Cardoso MJ,Vercauteren T,Ourselin S,Thompson A,Ciccarelli O,Chard DT

更新日期：2020-01-01 00:00:00

abstract：OBJECTIVE:Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and ...

journal_title：Annals of neurology

authors： Wilmshurst JM,Lillis S,Zhou H,Pillay K,Henderson H,Kress W,Müller CR,Ndondo A,Cloke V,Cullup T,Bertini E,Boennemann C,Straub V,Quinlivan R,Dowling JJ,Al-Sarraj S,Treves S,Abbs S,Manzur AY,Sewry CA,Muntoni F,Jung

更新日期：2010-11-01 00:00:00

abstract：:Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core...

journal_title：Annals of neurology

authors： Head RA,Brown RM,Zolkipli Z,Shahdadpuri R,King MD,Clayton PT,Brown GK

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:A number of hypotheses have been put forward as to why humans respond to fever by seizing. The current leading hypotheses are that respiratory alkalosis produces an as yet unidentified change in neural excitability or that inflammatory mediators potentiate excitatory synaptic transmission. However, it is well...

journal_title：Annals of neurology

authors： Thomas EA,Hawkins RJ,Richards KL,Xu R,Gazina EV,Petrou S

更新日期：2009-08-01 00:00:00

abstract：:A patient is described who suffered a bilateral hemorrhagic infarction in the parasagittal cerebrum following neonatal asphyxia. This case confirms experimental results that show the parasagittal cerebrum is especially vulnerable to ischemic damage in newborns. ...

journal_title：Annals of neurology

authors： Pasternak JF

更新日期：1987-02-01 00:00:00

abstract：:To clarify the influence of gastric emptying on levodopa-related motor fluctuations in Parkinson's disease, we assessed mobility and plasma levodopa concentrations in 10 patients during five modes of levodopa administration: (1) standard intermittent oral (SIO), (2) intermittent duodenal (ID), (3) continuous duodenal ...

journal_title：Annals of neurology

authors： Kurlan R,Nutt JG,Woodward WR,Rothfield K,Lichter D,Miller C,Carter JH,Shoulson I

更新日期：1988-06-01 00:00:00

abstract：:Protease-resistant prion protein, total prion protein, and glial fibrillary acidic protein were measured in various brain regions from 9 subjects with fatal familial insomnia. Six were homozygotes methionine/methionine at codon 129 (mean duration, 10.7 +/- 4 months) and 3 were heterozygotes methionine/valine (mean dur...

journal_title：Annals of neurology

authors： Parchi P,Castellani R,Cortelli P,Montagna P,Chen SG,Petersen RB,Manetto V,Vnencak-Jones CL,McLean MJ,Sheller JR

更新日期：1995-07-01 00:00:00

abstract：:Early differential diagnosis of motor neuropathies (MN) and lower motor neuron diseases (LMND) is important, as prognosis and therapeutic approaches are different. We evaluated the diagnostic contribution of the biopsy of the motor branch of the obturator nerve and gracilis muscle in 21 consecutive patients in which, ...

journal_title：Annals of neurology

authors： Riva N,Iannaccone S,Corbo M,Casellato C,Sferrazza B,Lazzerini A,Scarlato M,Cerri F,Previtali SC,Nobile-Orazio E,Comi G,Quattrini A

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. METHODS:Patients eva...

journal_title：Annals of neurology

authors： Norcliffe-Kaufmann L,Kaufmann H,Palma JA,Shibao CA,Biaggioni I,Peltier AC,Singer W,Low PA,Goldstein DS,Gibbons CH,Freeman R,Robertson D,Autonomic Disorders Consortium.

更新日期：2018-03-01 00:00:00

abstract：OBJECTIVE:This study addresses an important problem in neurology, distinguishing tremor and ataxia using quantitative methods. Specifically, we aimed to quantitatively separate dysmetria, a cardinal sign of ataxia, from tremor in essential tremor (ET). METHODS:In Experiment 1, we compared 19 participants diagnosed wit...

journal_title：Annals of neurology

authors： Casamento-Moran A,Yacoubi B,Wilkes BJ,Hess CW,Foote KD,Okun MS,Wagle Shukla A,Vaillancourt DE,Christou EA

更新日期：2020-08-01 00:00:00

abstract：:Averaged electroencephalographic activity related to rhythmic jerking movements was recorded in a patient with a complex neurological symptomatology. The diagnosis of a functional disorder was strongly suggested by his clinical course, inconsistent findings from physical examination, and negative workup. His abnormal ...

journal_title：Annals of neurology

authors： Toro C,Torres F

更新日期：1986-12-01 00:00:00

abstract：:The integrity of the hypothalamic neuroendocrine dopaminergic neurons in Parkinson's disease was assessed by comparing the numbers and distribution of melanin-pigmented neurons in the arcuate and periventricular nuclei in 7 parkinsonian and 5 normal brains. No significant differences were observed. In contrast to theo...

journal_title：Annals of neurology

authors： Matzuk MM,Saper CB

更新日期：1985-11-01 00:00:00