Abstract：
:Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). PRRT2 is a presynaptic protein which seems to play an important role in exocytosis and neurotransmitter release. PKD is the most common form of paroxysmal movement disorder characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements. Here, we sequenced PRRT2 in 14 sporadic and 8 familial PKD and ICCA cases of Caucasian origin and identified three novel mutations (c.919C>T/p.Gln307, c.388delG/p.Ala130Profs 46, c.884G>A/p.Arg295Gln) predicting two truncated proteins and one probably damaging point mutation. A review of all published cases is also included. PRRT2 mutations occur more frequently in familial forms of PRRT2-related syndromes (80-100 %) than in sporadic cases (33-46 %) suggesting further heterogeneity in the latter. PRRT2 mutations were rarely described in other forms of paroxysmal dyskinesias deviating from classical PKD, as we report here in one ICCA family without kinesigenic triggers. Mutations are exclusively found in two exons of the PRRT2 gene at a high rate across all syndromes and with one major mutation (c.649dupC) in a mutational hotspot of nine cytosines, which is responsible for 57 % of all cases in all phenotypes. We therefore propose that genetic analysis rapidly performed in early stages of the disease is highly cost-effective and can help to avoid further unnecessary diagnostic and therapeutic interventions.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Becker F,Schubert J,Striano P,Anttonen AK,Liukkonen E,Gaily E,Gerloff C,Müller S,Heußinger N,Kellinghaus C,Robbiano A,Polvi A,Zittel S,von Oertzen TJ,Rostasy K,Schöls L,Warner T,Münchau A,Lehesjoki AE,Zara F,Lerchdoi
10.1007/s00415-012-6777-ysubject
Has Abstractpub_date
2013-05-01 00:00:00pages
1234-44issue
5eissn
0340-5354issn
1432-1459journal_volume
260pub_type
杂志文章,评审abstract：:Altered cerebral vasoreactivity (CVR) has been implicated in migraine. To test this hypothesis, we studied CVR as measured by transcranial Doppler ultrasound (TCD) in 11 migraineurs and 12 healthy controls of similar age. Mean flow velocities (MFV) in the middle cerebral artery (MCA) were recorded during a cognitive a...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00867591
更新日期：1992-07-01 00:00:00
abstract：:A patient is described who developed complex partial seizures with secondary generalization 3 years after a severe viral encephalitis with a CT and EEG identified lesion in the left insular cortex and its surrounding structures. When the seizures first occurred CT and MRI as well as repeated interictal conventional EE...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314461
更新日期：1989-07-01 00:00:00
abstract：:Prognosis of patients with ischemic stroke requiring mechanical ventilation (MV) has been reported to be poor. However, longterm survival and functional outcome have scarcely been studied and nothing is known about the prevalence of cognitive impairment or depression in survivors and their quality of life (QoL). We id...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s00415-005-0711-5
更新日期：2005-06-01 00:00:00
abstract：:Diminished activity of uroporphyrinogen I-synthetase in the liver and other tissues may be regarded to be the primary genetic deficiency of acute intermittent porphyria (AIP). Increased production and renal excretion of delta-aminolevulinic acid (ALA) und porphobilinogen (PBG) are secondary phenomena. The neuropsychia...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00316572
更新日期：1977-03-21 00:00:00
abstract：:Long-term treatment studies with any antiparkinsonian drug are rather limited. Especially, double-blind, randomized and multicenter studies do not exist except for some rare exceptions. Nonetheless, such studies are mandatory to prove certain therapy regimens. This overview reports on the comparison between dopamine a...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/pl00007768
更新日期：2000-09-01 00:00:00
abstract：:Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-019-09319-8
更新日期：2020-08-01 00:00:00
abstract：OBJECTIVE:Determine toxicity and efficacy of autologous hematopoietic stem cell transplantation (HSCT) for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are dependent on intravenous immunoglobulins or plasmapheresis. METHODS:Unselected peripheral blood stem cells were re-infused on...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10010-6
更新日期：2020-11-01 00:00:00
abstract：:Risk of relapse after natalizumab (NAT) cessation and switch to dimethyl fumarate (DMF) is unknown. The objective of this paper is to identify the risk and associated risk factors for relapse after switching from NAT to DMF in relapsing-remitting multiple sclerosis. Patients (n = 30) were treated with NAT for ≥12 mont...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8162-8
更新日期：2016-08-01 00:00:00
abstract：:In a fatal case of neuroleptic malignant syndrome, a muscle sample taken within 1 h of death showed acute myopathic features with absence of muscle glycogen and neutral lipid. These features suggest that hyperpyrexia in this syndrome may be caused by heat production from uncoupled phosphorylation in muscle and imply t...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00718024
更新日期：1987-12-01 00:00:00
abstract：:The polymorphism of the HLA class II genes was investigated in 97 patients with multiple sclerosis (MS) in Hokkaido, the northernmost main island of Japan. Of these, 80 patients were classified as having conventional MS and 17 as having opticospinal MS (OS-MS). Our findings confirmed a previous report that the DPB 1*0...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150050558
更新日期：2000-03-01 00:00:00
abstract：:A recently developed technique is used to study the permeation of water through membranes of human erythrocyte ghosts. The method, based on the difference of the indices of refraction of H2O and D2O, is briefly described. Comparative measurements on erythrocyte ghosts from normal donors and from patients with Huntingt...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313655
更新日期：1984-01-01 00:00:00
abstract：:In fibromyalgia (FM), reduced habituation of laser-evoked potentials (LEPs) suggests a dysfunction of pain processing at a central level. In this study, we aimed to further examine the nociceptive pathways at the peripheral to the central level in a large group of FM patients by means of LEPs and skin biopsy, in light...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-013-7211-9
更新日期：2014-03-01 00:00:00
abstract：:From a family with essential familial myoclonus, 150 members in eight generations were studied. Twenty-five of them suffered from myoclonus of varying severity. The findings in routine examinations of blood, urine and cerebrospinal fluid, EEG and skull radiographs were normal. Therapeutic trials did not produce lastin...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313626
更新日期：1983-01-01 00:00:00
abstract：:The etiology of spontaneous cervical artery dissection (sCAD) is unknown. An underlying connective tissue disorder has been suggested. As a collagen disease is conceivable several genes encoding fibrillar collagens have been condsidered as candidate genes for sCAD. We analysed the COL3A1 gene in patients with spontane...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0745-x
更新日期：2002-07-01 00:00:00
abstract：:After head injuries, particularly mild or moderate ones, a range of post-concussion symptoms (PCS) are often reported by patients. Such symptoms may significantly affect patients' psychosocial functioning. To date, no measure of the severity of PCS has been developed. This study presents the Rivermead Post Concussion ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00868811
更新日期：1995-09-01 00:00:00
abstract：:Migraine is a common debilitating neurological disease characterised by attacks of severe headache with or without preceding aura. Its aetiology remains elusive; however it is clear that an interplay of genetic and environmental components play an important role. Familial hemiplegic migraine (FHM) is a rare and severe...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-007-0641-5
更新日期：2007-12-01 00:00:00
abstract：:Regional cerebral glucose metabolism (rCMRGlc) and dopamine D2 receptor binding were measured in a 31-year-old, severely affected, untreated patient with Wilson's disease of 3 years' duration using positron emission tomography and 18F-deoxyglucose and 18F-methylspiperone ([18F]MSP), respectively. There was a severe re...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00920620
更新日期：1994-10-01 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
pub_type： 杂志文章,评审
doi：10.1007/s00415-006-0347-0
更新日期：2006-12-01 00:00:00
abstract：INTRODUCTION:Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutations in familial and ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09380-3
更新日期：2019-09-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09614-4
更新日期：2020-03-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-018-9099-x
更新日期：2019-01-01 00:00:00
abstract：BACKGROUND:Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematica...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09455-1
更新日期：2019-10-01 00:00:00
abstract：BACKGROUND:The significance of neutrophil-to-lymphocyte ratio (NLR) has been explored in different diseases. Few studies addressed its role in patients with multiple sclerosis (MS), with promising results regarding its association with disease activity or disability. OBJECTIVES:We aimed at confirming the role of NLR a...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10322-7
更新日期：2021-01-03 00:00:00
abstract：OBJECTIVE:We aimed to assess the effectiveness of conservative treatments in children with tension-type headaches (TTH). METHOD:We searched Medline, Embase and the Cochrane Library and performed reference checking. Two independent authors assessed trial quality and extracted data. Analysis was carried out according to...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-005-0940-7
更新日期：2005-10-01 00:00:00
abstract：:Parkinson's disease (PD) is characterised both clinically and pathologically by features that distinguish it from other parkinsonian disorders including, for instance, multiple system atrophy and progressive supranuclear palsy. The aetiologies of PD includes both genetic and environmental influences. Several single ge...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-011-6016-y
更新日期：2011-05-01 00:00:00
abstract：:Sexuality in patients with amyotrophic lateral sclerosis (ALS) has received little attention so far. Although sexual function is not directly affected by the disease process, several patients have reported problems within their sexual relationship. We performed a questionnaire survey to ascertain the extent and clinic...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-004-0351-1
更新日期：2004-04-01 00:00:00
abstract：:Postpartum lower limb motor and/or sensory deficit is an uncommon obstetrical complication. We aimed to identify its incidence, etiology, and precipitating factors, as well as the neurological prognosis by retrospectively analyzing the successive neurological evaluations, electrophysiological, and MRI data from all th...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8388-5
更新日期：2017-03-01 00:00:00
abstract：:Rapid-eye-movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by complex motor activity associated with dreaming during REM sleep. RBD may be idiopathic or associated with various neurological diseases involving the brainstem. The association of RBD and limbic system impairment was unclear. We r...
journal_title：Journal of neurology
pub_type： 信件
doi：10.1007/s00415-009-5067-9
更新日期：2009-07-01 00:00:00
abstract：:Behçet's disease is a multisystem inflammatory disorder with unknown aetiology. It is a disease of young adults with a more severe course in males subjects. Its prevalence is high in the Mediterranean basin and Japan and has been linked with human leucocyte antigen B5 (HLA-B5) in those countries. According to the diag...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s004150050205
更新日期：1998-04-01 00:00:00
abstract：:Based on the observation of bilateral temporoparietal hypoperfusion in Alzheimer's disease (AD), single photon emission computed tomography (SPECT) is advocated by some as a powerful diagnostic tool in the evaluation of demented patients. We studied whether routine brain SPECT in elderly, mildly demented outpatients i...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00868397
更新日期：1995-06-01 00:00:00
