Results 1 to 10 of about 71,064 (224)

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3 [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Li C, Ye Z, Chen X, Qiu L, Chen Z, Qiu Y, Lin W, Yuan R, Yu X, Huang C, Chen X, Lin M, Hu J, Chen W, Wang N, Yao S, Gan S, Fu Y.   +17 more
europepmc   +2 more sources

ON/OFF Phenomenon in 4-Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Caneda C, Bertoncello E, Peghin A, Satolli S, Santorelli FM, Tinazzi M, Di Vico IA.   +6 more
europepmc   +2 more sources

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Tetsuo Ashizawa, Walter O Arruda
exaly   +3 more sources

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing. [PDF]

Ann Neurol
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Soto I, Bonomo M, Nelthrope BS, Carr BD, Palmer E, Sierra M, Erturk I, Peppercorn D, Cox E, Vasconcellos TK, Paulson HL, Shorrock HK, Srinivasan SR.   +12 more
europepmc   +2 more sources

A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease

Advanced Biomedical Research, 2023
Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Narges Zare, Hosein Saneian, Majid Khademian   +2 more
doaj   +1 more source

Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)

Актуальные проблемы теоретической и клинической медицины, 2022
This article will present a clinical case of a patient with hereditary spinocerebellar ataxia type 2 (SCA-type 2). Spinocerebellar ataxia is a group of hereditary progressive cerebellar ataxias, numbering over 40 subspecies, manifested in the form of ...
I. Em
doaj   +1 more source

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia

Journal of Veterinary Internal Medicine, 2023
Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti   +10 more
doaj   +1 more source

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

Frontiers in Human Neuroscience, 2023
The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family ...
Shuling Chen, Siyu Li, Ying Liu, Renyi She, Wei Jiang   +4 more
doaj   +1 more source

A Case of Orthognathic Surgery for Jaw Deformity in a Patient with Spinocerebellar Ataxia

Plastic and Reconstructive Surgery, Global Open, 2022
Summary:. Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that can cause various ataxia symptoms. Here we report a patient with spinocerebellar ataxia who underwent orthognathic surgery to correct a mandibular protrusion with ...
Marika Sato, DDS, PhD, Yoko Kawase-Koga, DDS, PhD, Hayato Hamada, DDS, PhD, Daichi Chikazu, DDS, PhD   +3 more
doaj   +1 more source