Results 81 to 90 of about 33,006 (235)

Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection

Arquivos de Neuro-Psiquiatria, 2015
Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry.
Hélio Afonso Ghizoni Teive, Adriana Moro, Mariana Moscovich, Walter Oleskho Arruda, Renato Puppi Munhoz, Salmo Raskin, Gladys Mary Ghizoni Teive, Norberto Dallabrida, Tetsuo Ashizawa   +8 more
doaj   +1 more source

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, EarlyView.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

, 2015
We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Voyce, DC, Marsden, JF, Day, BL, Bunn, LM, Giunti, P   +4 more
core  

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

ON/OFF Phenomenon in 4‐Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights

Movement Disorders Clinical Practice, EarlyView.
Chiara Caneda, Eleonora Bertoncello, Alessia Peghin, Sara Satolli, Filippo Maria Santorelli, Michele Tinazzi, Ilaria Antonella Di Vico   +6 more
wiley   +1 more source

PML as a neuroprotective guardian: Leveraging nuclear protein quality control to mitigate neurotoxicity of an ALS‐associated NEK1 variant

The FEBS Journal, EarlyView.
Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley   +1 more source

Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India

Annals of Indian Academy of Neurology, 2014
Background: Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). Aims and Objectives: To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype ...
Debabrata Pulai, Deb Shankar Guin, Kalyan B Bhattacharyya, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Atanu Biswas, Alak Pandit, Arijit Roy, Asit Kumar Senapati   +9 more
doaj   +1 more source

The preclinical stage of spinocerebellar ataxias

Neurology, 2015
The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be established years or even decades before the actual appearance of ataxia ...
Maas, R.P., van Gaalen, J., van Gaalen, J., Klockgether, T., van de Warrenburg, B.P.C.   +4 more
openaire   +5 more sources

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Stimulating proteasomal degradation in human proteinopathies

The FEBS Journal, EarlyView.
The proteasome mediates the degradation of a wide range of proteins. Boosting proteasomal degradation may be beneficial in several disease contexts and can be achieved either by modulating proteasome activity or by improving substrate delivery. Proteasome activity can be enhanced by increasing proteasome abundance, inducing constitutive gate opening ...
Maria E. Gierisch, Enrica Barchi, Nico P. Dantuma   +2 more
wiley   +1 more source