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Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G  >  A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer, Ritwik Ghosh Tags: CASE REPORT Source Type: research

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research

CNS Summit 2017 Abstracts of Poster Presentations
Conclusion: This novel technology discriminates and quantifies subtle differences in behavior and neurological impairments in subjects afflicted with neurological injury/disease. KINARM assessments can be incorporated into multi-center trials (e.g., monitoring stroke motor recovery: NCT02928393). Further studies will determine if KINARM Labs can demonstrate a clinical effect with fewer subjects over a shorter trial period. Disclosures/funding: Dr. Stephen Scott is the inventor of KINARM and CSO of BKIN Technologies.   Multiplexed mass spectrometry assay identifies neurodegeneration biomarkers in CSF Presenter: Chelsky...
Source: Innovations in Clinical Neuroscience - November 1, 2017 Category: Neuroscience Authors: ICNS Online Editor Tags: Assessment Tools biomarkers Cognition Current Issue Drug Development General Genetics Medical Issues Neurology Patient Assessment Psychopharmacology Scales Special Issues Supplements Trial Methodology clinical trials CNS Su Source Type: research