Results 71 to 80 of about 2,429 (159)

Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion

Frontiers in Neuroscience, 2020
Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders caused by the expansion of a CAG repeat sequence located within the coding region of ...
Anna Niewiadomska-Cimicka, Anna Niewiadomska-Cimicka, Anna Niewiadomska-Cimicka, Anna Niewiadomska-Cimicka, Antoine Hache, Antoine Hache, Antoine Hache, Antoine Hache, Yvon Trottier, Yvon Trottier, Yvon Trottier, Yvon Trottier   +11 more
doaj   +1 more source

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.

PLoS ONE, 2013
The human α1A voltage-dependent calcium channel (Cav2.1) is a pore-forming essential subunit embedded in the plasma membrane. Its cytoplasmic carboxyl(C)-tail contains a small poly-glutamine (Q) tract, whose length is normally 4∼19 Q, but when expanded ...
Makoto Takahashi, Masato Obayashi, Taro Ishiguro, Nozomu Sato, Yusuke Niimi, Kokoro Ozaki, Kaoru Mogushi, Yasen Mahmut, Hiroshi Tanaka, Fuminori Tsuruta, Ricardo Dolmetsch, Mitsunori Yamada, Hitoshi Takahashi, Takeo Kato, Osamu Mori, Yoshinobu Eishi, Hidehiro Mizusawa, Kinya Ishikawa   +17 more
doaj   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, Volume 13, Issue 5, Page 1322-1325, May 2026.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Molecular Epidemiology of Spinocerebellar Ataxia Type 6

We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number ...
Chinnery PF, Craig K, Curtis A, Keers SM, Archibald K   +4 more
core   +5 more sources

MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Case Reports in Neurology, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo   +3 more
doaj   +1 more source

The 3-second rule in hereditary pure cerebellar ataxia: a synchronized tapping study.

PLoS ONE, 2015
The '3-second rule' has been proposed based on miscellaneous observations that a time period of around 3 seconds constitutes the fundamental unit of time related to the neuro-cognitive machinery in normal humans.
Shunichi Matsuda, Hideyuki Matsumoto, Toshiaki Furubayashi, Ritsuko Hanajima, Shoji Tsuji, Yoshikazu Ugawa, Yasuo Terao   +6 more
doaj   +1 more source

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

Brain and Behavior, 2019
Background Spinocerebellar ataxia (SCA) presents with variable clinical presentations in addition to ataxia. The aim of this study was to reappraise the diverse nonataxic clinical characteristics of the five most common SCA subtypes in the Asian ...
Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin   +4 more
doaj   +1 more source

Genotyp-spezifisches Fortschreiten der Atrophie ist sensitiver als klinische Veränderungen bei SCA3 und SCA6

, 2014
Autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of progressive neurodegenerative disorders. SCAs are clinically characterized by mainly cerebellar ataxia, resulting in unsteady gait, clumsiness, and dysarthria and but can ...
Lehmann, Anna
core  

Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]

, 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