Results 31 to 40 of about 25,975 (129)

Social Cognition in Patients With Cerebellar Neurodegenerative Disorders

Frontiers in Systems Neuroscience, 2021
ObjectiveCerebellar neurodegenerative disorders (CDs) are a heterogeneous group of disorders. It is known that the cerebellum plays a role not only in motor, but also in cognitive and social cognitive functions.
Olivera Tamaš, Milutin Kostić, Aleksandra Kačar, Elka Stefanova, Biljana Salak Ðokić, Dejana Stanisavljević, Andona Milovanović, Mirjana Ðorđević, Nenad Glumbić, Nataša Dragašević-Mišković   +9 more
doaj   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report

Case Reports in Neurology, 2015
Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13.
Marie Bruun, Lena Elisabeth Hjermind, Carsten Thomsen, Else Danielsen, Lise Lykke Thomsen, Lars Hageman Pinborg, Nastaran Khabbazbavani, Joergen Erik Nielsen   +7 more
doaj   +1 more source

Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6

Stem Cell Research, 2020
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant hereditary disease caused by repeated CAG amplification in the CACNA1A gene. There is no specific treatment for SCA6, and the currently administered treatment is mainly symptomatic.
Ting Yang, Jie Qin, Qi Zhang, Huifang Sun, Zhuoya Wang, Jing yang, Han liu, Chan Zhang, Shoutao Zhang, Jin Zhang, Yanlin Wang, Yuming Xu   +11 more
doaj   +1 more source

A longitudinal quantitative analysis of gait in patients with SCA-12

Clinical Parkinsonism & Related Disorders, 2021
Introduction: Spinocerebellar ataxia type 12 (SCA 12) is characterized by late onset tremor, ataxia and pyramidal signs. Parkinsonism and cognitive decline may appear with time.
Ummatul Siddique, Supriyo Choudhury, Koustav Chatterjee, Simin Rahman, Sakhi Bhansali, Banashree Mondal, Purba Basu, Hrishikesh Kumar   +7 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 more
doaj   +1 more source

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Frontiers in Neurology, 2022
A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc ...
Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni   +13 more
doaj   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source