Results 51 to 60 of about 2,429 (159)

Análise de repetições CAG nos genes SCA1, SCA2, SCA3 e SCA6 em pacientes com suspeita clínica de ataxia espinocerebelar [PDF]

, 2007
As ataxias espinocerebelares (SCAs) são doenças neurodegenerativas com herança autossômica dominante que apresentam grande heterogeneidade clínica e genética. O diagnóstico é realizado pela detecção da mutação no gene causador, que, na sua maioria, é uma
Emmel, Vanessa Erichsen
core   +1 more source

A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7

Behavioural Neurology, 2010
Over the last decade, studies have implicated the cerebellum not only in motor functioning, but also in cognition and social cognition. Although some aspects of cognition have been explored in the five most common forms of Spinocerebellar Ataxia (SCA ...
N. Sokolovsky, A. Cook, H. Hunt, P. Giunti, L. Cipolotti   +4 more
doaj   +1 more source

Splice isoform-specific suppression of the CaV2.1 variant underlying spinocerebellar ataxia type 6

Neurobiology of Disease, 2011
Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the CaV2.1 voltage-gated calcium channel subunit (CACNA1A).
Wei-Ling Tsou, Bing-Wen Soong, Henry L. Paulson, Edgardo Rodríguez-Lebrón   +3 more
doaj   +1 more source

Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley   +1 more source

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. [PDF]

, 1997
Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2).
Trettel F, Sabbadini G, Veneziano L, Salvi F, Mantuano E, Ophoff RA, Jodice C, Spadaro M, Frants RR, Pierelli F, Calandriello L, Francia A, Frontali M   +12 more
core   +2 more sources

Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel—loss-of-function cellular model of SCA6

Neurobiology of Disease, 2004
Spinocerebellar ataxia (SCA) 6 is caused by small expansion of a polyglutamine sequence, encoded by CAG trinucleotide repeats, at the C-terminal end of the human CaV2.1 (P/Q-type) Ca2+ channel α12.1 subunit and it manifests itself as slowly progressive ...
Zenjiro Matsuyama, Naomi Kimoto Yanagisawa, Yoko Aoki, John L. Black, III, Vanda A. Lennon, Yasuo Mori, Keiji Imoto, Takashi Inuzuka   +7 more
doaj   +1 more source

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

European Journal of Neurology, Volume 33, Issue 2, February 2026.
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Victor Alm, Linda Säll, Kristin Samuelsson, Rayomand Press, Snjolaug Arnardottir, Anna Lindstrand, Valter Niemelä, Lilia Terinte, Frida Nordin, Per Svenningsson, Daniel Nilsson, Luca Verrecchia, Martin Paucar   +12 more
wiley   +1 more source

Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression

SCA6 patients with the same size CAG repeat allele can vary significantly in age at onset (AAO) and clinical progression. The specific external factors affecting SCA6 have yet to be investigated.
Schmahmann, Jeremy D., Chen, Tiffany X, Chen, Tiffany X., Boyle, Theresa A, Boyle, Theresa A., Schmahmann, Jeremy D, Kuo, Sheng-Han, Gomez, Christopher M, L\u27Italien, Gilbert J, L’Italien, Gilbert J., Lin, Chi-Ying R, Casey, Hannah L., Gomez, Christopher M., Casey, Hannah L, Lin, Chi-Ying R.   +14 more
core   +1 more source

Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31 [PDF]

, 2015
Spinocerebellar ataxia type 31 (SCA31) and spinocerebellar ataxia type 6 (SCA6) are the most frequent types of spinocerebellar degeneration in Japan. Previous reports described that it was difficult to distinguish SCA6 and SCA31 in clinical situations ...
Shirai, Shinichi, Matsushima, Masaaki, Sasaki, Hidenao, Yoshida, Kunihiro, Takahashi, Ikuko, Yabe, Ichiro, Ishikawa, Kinya   +6 more
core   +1 more source

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan [PDF]

, 2009
16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of
Sato, Shunichi, Shimizu, Yusaku, Sakai, Haruya, Okano, Tomomi, Ikeda, Shu-ichi, Hattori, Takeshi, Ohara, Shinji, Tabata, Kenichi, Matsumoto, Naomichi, Inoue, Atsushi, Morita, Hiroshi, Ushiyama, Masao, Nakamura, Katsuya, Tazawa, Ko-ichi, Shimojima, Yasuhiro, Yoshida, Kunihiro, Ohata, Takako   +16 more
core   +2 more sources