Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions

2017 ◽  
Vol 92 (1) ◽  
Author(s):  
Joanne E. Martindale
Keyword(s):  
Trinucleotide Repeat ◽  
Spinocerebellar Ataxias ◽  
Repeat Expansions

scholarly journals Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

2018 ◽  
Vol 76 (8) ◽  
pp. 555-562 ◽  
Author(s):  
Carlos Roberto Martins Junior ◽  
Fabrício Castro de Borba ◽  
Alberto Rolim Muro Martinez ◽  
Thiago Junqueira Ribeiro de Rezende ◽  
Iscia Lopes Cendes ◽  
...  
Keyword(s):  
Clinical Features ◽  
Autosomal Dominant ◽  
Trinucleotide Repeat ◽  
Point Of View ◽  
Spinocerebellar Ataxias ◽  
Coding Region ◽  
The Past ◽  
Monogenic Diseases ◽  
Repeat Expansions ◽  
Core Features

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

scholarly journals Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110361
Author(s):  
Ashley A. Moeller ◽  
Marcia V. Felker ◽  
Jennifer A. Brault ◽  
Laura C. Duncan ◽  
Rizwan Hamid ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Huntington Disease ◽  
Early Onset ◽  
Trinucleotide Repeat ◽  
Cerebellar Atrophy ◽  
Cag Repeats ◽  
Ataxic Gait ◽  
Repeat Expansions ◽  
Delays In Diagnosis ◽  
Juvenile Huntington Disease

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.

Inherited Ataxias

2015 ◽  
Author(s):  
Susan Perlman
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Friedreich Ataxia ◽  
Spinocerebellar Ataxias ◽  
Recessive Ataxia ◽  
Internet Resources ◽  
Genetic Abnormalities ◽  
Repeat Expansions ◽  
The Common ◽  
Inherited Ataxias

The inherited ataxias are disorders that cause progressive imbalance as a result of pathology in the cerebellum and its various connecting pathways. Autosomal recessive ataxias include Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia-telangiectasia, and autosomal recessive ataxia of Charlevoix-Saguenay, among others. A discussion of autosomal dominant ataxias covers spinocerebellar ataxias (SCA) types 1 through 14, dentatorubral pallidoluysian atrophy (DRPLA), and episodic ataxia (EA) syndromes. Clinical features, laboratory studies, differential diagnosis, and management of inherited ataxias are discussed. Tables describe both autosomal recessive ataxias and autosomal dominant ataxias (with known gene loci), childhood– or young adult–onset ataxias with ill-defined genetic abnormalities, phenotypic features that may indicate a specific genotype in the common autosomal dominant ataxias, and normal and expanded ranges of various repetitive nucleotide sequences in inherited ataxias. Figures include a diagrammatic representation of the type of repeat expansions associated with ataxias, aggregates of ataxin 3, a schematic of some of the proposed pathogenic mechanisms in the polyglutamine ataxias, and dystonia in a patient with SCA3. A sidebar offers selected Internet resources for information on ataxias. This chapter contains 64 references.

scholarly journals The 26S proteasome drives trinucleotide repeat expansions

2013 ◽  
Vol 41 (12) ◽  
pp. 6098-6108 ◽  
Author(s):  
Claire Concannon ◽  
Robert S. Lahue
Keyword(s):  
Trinucleotide Repeat ◽  
26S Proteasome ◽  
Repeat Expansions

scholarly journals RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility

Cell Reports ◽  
2014 ◽  
Vol 6 (5) ◽  
pp. 827-835 ◽  
Author(s):  
Aisling Frizzell ◽  
Jennifer H.G. Nguyen ◽  
Mark I.R. Petalcorin ◽  
Katherine D. Turner ◽  
Simon J. Boulton ◽  
...  
Keyword(s):  
Trinucleotide Repeat ◽  
Repeat Expansions

scholarly journals Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions

PLoS Biology ◽  
2012 ◽  
Vol 10 (2) ◽  
pp. e1001257 ◽  
Author(s):  
Kim Debacker ◽  
Aisling Frizzell ◽  
Olive Gleeson ◽  
Lucy Kirkham-McCarthy ◽  
Tony Mertz ◽  
...  
Keyword(s):  
Histone Deacetylase ◽  
Trinucleotide Repeat ◽  
Repeat Expansions

Trinucleotide repeat expansions in thejunctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

2002 ◽  
Vol 51 (5) ◽  
pp. 662-662 ◽  
Author(s):  
Ingrid Bauer ◽  
Martin Gencik ◽  
Franco Laccone ◽  
Hartmut Peters ◽  
Bernhard H. F. Weber ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Trinucleotide Repeat ◽  
Repeat Expansions ◽  
Caucasian Patients
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