Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.

CONCLUSIONS: TorsinA with S287Y damages the structure of the cell nucleus and may be a novel pathogenic mutation that causes isolated dystonia. PMID: 32243914 [PubMed - as supplied by publisher]
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research

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ConclusionsOur paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.
Source: Neurological Sciences - Category: Neurology Source Type: research
Publication date: 19 May 2020Source: Cell Reports, Volume 31, Issue 7Author(s): Giuseppe Sciamanna, Giulia Ponterio, Valentina Vanni, Daniela Laricchiuta, Giuseppina Martella, Paola Bonsi, Maria Meringolo, Annalisa Tassone, Nicola Biagio Mercuri, Antonio Pisani
Source: Cell Reports - Category: Cytology Source Type: research
In case you were ever stupid enough to follow Trump’s lead you would have already injected ultraviolets in your eyeballs by now to save you from Covid and maybe bathed in Domestos or sulfuric acid or both! Anyway, his latest bullshine claim is that he’s been taking the antimalarial drug hydroxychloroquine to keep Covid at bay. Well, for starters there is no evidence that this drug acts as a prophylactic against infection with SARS CoV-2 or indeed any pathogen other than the causative agent of otherwise drug-resistant malaria. It’s primary use is in treating lupus. There was some testing done weeks ago to...
Source: David Bradley Sciencebase - Songs, Snaps, Science - Category: Science Authors: Tags: Health and Medicine Source Type: blogs
Publication date: Available online 17 May 2020Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral RadiologyAuthor(s): Asha Sude, Donald R. Nixdorf
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
ConclusionsHeadaches are highly prevalent amongst cervical dystonia patients, have an impact on their quality of life and improves after BoNT ‐A injections.
Source: European Journal of Pain - Category: Anesthesiology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Paroxysmal movement disorders represent a group of episodic involuntary movements, and some of them are distinguished clinically by unique precipitating factors. The effect of sex hormone on movement disorder has been recognized in recent years [1], but the association of paroxysmal movement disorders with sex hormone has rarely been studied. Na+/K  + -ATPase α3 subunit (ATP1A3) gene mutations (OMIM 182350) are associated with at least 3 distinct but overlapping neurological syndromes such as: rapid-onset dystonia parkinsonism, alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes...
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Pure spinocerebellar ataxias (SCA) are rare in isolation; they commonly appear in association with other neurological disorders. Very rarely, cerebellar ataxia (typically slowly progressive) is associated with isolated cervical dystonia. This combination of disorders gives rise to great diagnostic uncertainty. The literature includes reports of several recent cases of this association, which rule out the mutations causing common SCAs and do not identify a definite cause. It has been suggested that this combination of disorders may be a distinct clinical entity.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Stair ‐specific FTSD in the lower limb is very rare. Most patients show dystonic posture when walking downstairs rather than upstairs. AbstractStair ‐specific FTSD in the lower limb is very rare. Most patients show dystonic posture when walking downstairs rather than upstairs.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CLINICAL VIDEO Source Type: research
This article is protected by copyright. All rights reserved. PMID: 32385905 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Conclusions: Most patients with NSAb-associated AE had seizures; seizure types varied between different types of AE. In LGI1 AE, the hippocampus and basal ganglia were two main targets; the corresponding seizure type was MTLE-like seizure and FBDS, respectively. Anti-NMDAR encephalitis had more generalized than focal seizures. Delta activity or rhythm in the frontotemporal region in EEG was helpful for diagnosis. Anti-GABABR encephalitis was characterized by refractory seizures as initial symptom, mainly GTCS or MTLE-like seizure. Most seizures in NSAb-associated AE showed good response to immunotherapy, and antiepileptic ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
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