scholarly journals Genetics of Hereditary Ataxia in Scottish Terriers

2017 ◽  
Vol 31 (4) ◽  
pp. 1132-1139 ◽  
Author(s):  
G. Urkasemsin ◽  
D.M. Nielsen ◽  
A. Singleton ◽  
S. Arepalli ◽  
D. Hernandez ◽  
...  
Keyword(s):  
Hereditary Ataxia ◽  
Scottish Terriers

Dysarthria Profiles in Adults With Hereditary Ataxia

2019 ◽  
Vol 28 (2S) ◽  
pp. 915-924 ◽  
Author(s):  
Kristie A. Spencer ◽  
Mallory Dawson
Keyword(s):  
Rating Scales ◽  
Feedforward Control ◽  
Hereditary Ataxia ◽  
Severity Rating ◽  
Visual Analog Scales ◽  
Speech Characteristics ◽  
Ataxic Dysarthria ◽  
Preliminary Study

Purpose This preliminary study examined whether speech profiles exist for adults with hereditary ataxia based on 2 competing frameworks: a pattern of instability/inflexibility or a pattern of differential subsystem involvement. Method Four dysarthria experts rated the speech samples of 8 adults with dysarthria from hereditary ataxia using visual analog scales and presence/severity rating scales of speech characteristics. Speaking tasks included diadochokinetics, sustained phonation, and a monologue. Results Speech profiles aligned with the instability/inflexibility framework, with the pattern of instability being the most common. Speech profiles did not emerge for the majority of speakers using the differential subsystem framework. Conclusions The findings extend previous research on pure ataxic dysarthria and suggest a possible framework for understanding the speech heterogeneity associated with the ataxias. The predominance of the instability profile is consistent with the notion of impaired feedforward control in speakers with cerebellar disruption.

CANVAS is a common form of late-onset hereditary ataxia

2020 ◽  
pp. 51-52
Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Picture ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Repeat Expansion ◽  
Hereditary Ataxia ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

HEREDITARY ATAXIA

JAMA ◽  
1963 ◽  
Vol 185 (8) ◽  
pp. 661
Keyword(s):  
Hereditary Ataxia

Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes

DNA Repair ◽  
2006 ◽  
Vol 5 (12) ◽  
pp. 1489-1494 ◽  
Author(s):  
Ze-Hong Miao ◽  
Keli Agama ◽  
Olivier Sordet ◽  
Lawrence Povirk ◽  
Kurt W. Kohn ◽  
...  
Keyword(s):  
Topoisomerase I ◽  
Hereditary Ataxia

Inositide Metabolism in Rabbit Hereditary Ataxia

1967 ◽  
Vol 17 (6) ◽  
pp. 661-665 ◽  
Author(s):  
S. G. Eliasson ◽  
J. D. Scarpellini ◽  
R. R. Fox
Keyword(s):  
Hereditary Ataxia

Hereditary Cerebellar Degeneration in Scottish Terriers

2010 ◽  
Vol 24 (3) ◽  
pp. 565-570 ◽  
Author(s):  
G. Urkasemsin ◽  
K.E. Linder ◽  
J.S. Bell ◽  
A. De Lahunta ◽  
N.J. Olby
Keyword(s):  
Cerebellar Degeneration ◽  
Scottish Terriers

HEREDITARY ATAXIA

1932 ◽  
Vol 23 (7) ◽  
pp. 277-281
Author(s):  
PAUL POPENOE ◽  
KATE BROUSSEAU
Keyword(s):  
Hereditary Ataxia
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