Results 21 to 30 of about 5,948 (206)
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients
The Cerebellum, 2020 Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a
Teive, Helio Afonso Ghizoni +7 more
core +5 more sources
Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice
Neurobiology of DiseaseSpinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia and belongs to the family of nine diseases caused by a polyglutamine expansion in the disease-causing protein.
Alexandra F. Putka +3 more
doaj +4 more sources
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations [PDF]
European Journal of Human Genetics, 2004 This pilot study was initiated to show the existence of founder effects in the Dutch autosomal dominant cerebellar ataxia (ADCA) population. The ADCAs comprise a clinically heterogeneous group of neurodegenerative disorders and the estimated prevalence ...
Verbeek, Dineke S +11 more
core +4 more sources
Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. [PDF]
PLoS ONE, 2015 Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The
Zhe Long +14 more
doaj +2 more sources
Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3 [PDF]
Frontiers in Cellular NeuroscienceSpinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by polyglutamine repeat expansion in the ATXN3 gene. Despite the ubiquitous expression of ATXN3 throughout the body, SCA3 pathology is most pronounced in select, vulnerable ...
Jacen Emerson +7 more
doaj +2 more sources
Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3) patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among
Jing LI +12 more
doaj +1 more source
Neurología (English Edition), 2011 Background: The spinocerebellar ataxias (SCA) are a group of genetic neurodegenerative diseases, clinically and pathologically heterogeneous, characterized by slowly progressive cerebellar ataxia.
S. Álvarez-Paradelo +3 more
doaj +2 more sources
Frontiers in Neuroscience, 2020 Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive autosomal dominantly inherited cerebellar ataxia characterized by the aggregation of polyglutamine-expanded protein within neuronal nuclei in the brain, which can lead to brain damage that precedes the onset of clinical manifestations.
Na Wan +10 more
openaire +3 more sources
Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3
Disease Models & Mechanisms, 2022 Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction.
Kristin Mayoral-Palarz +5 more
doaj +1 more source
Frontiers in Neuroscience, 2022 BackgroundSpinocerebellar ataxia type 3 (SCA3) is a complex cerebrocerebellar disease primarily characterized by ataxia symptoms alongside motor and cognitive impairments.
Kah Hui Yap +6 more
doaj +1 more source