Triplet expansion cytosine–guanine–guanine: Three cases of OMIM syndrome in the same family

2016 ◽  
Vol 146 (7) ◽  
pp. 311-315
Author(s):  
Jesús González-Pérez ◽  
Silvia Izquierdo-Álvarez ◽  
Cristina Fuertes-Rodrigo ◽  
Lorena Monge-Galindo ◽  
José Luis Peña-Segura ◽  
...  
Keyword(s):  
Triplet Expansion

Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

2001 ◽  
Vol 21 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Ralf Schober ◽  
Wolfram Kress ◽  
Friedrich Grahmann ◽  
Steffen Kellermann ◽  
Petra Baum ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Triplet Expansion

scholarly journals Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

2020 ◽  
Vol 12 (3) ◽  
pp. 466-471
Author(s):  
Giulia Grigioni ◽  
Christian Saleh ◽  
Phillip Jaszczuk ◽  
Dorothea Wand ◽  
Stefanie Wilmes ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Neurodegenerative Disorder ◽  
Fragile X ◽  
Disease Diagnosis ◽  
Cerebellar Degeneration ◽  
Gait Ataxia ◽  
Intention Tremor ◽  
Triplet Expansion ◽  
Ataxia Syndrome

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the <i>FMR1</i>gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.

scholarly journals Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

Neurology ◽  
2019 ◽  
Vol 93 (2) ◽  
pp. e116-e124 ◽  
Author(s):  
Brice Marty ◽  
Gilles Naeije ◽  
Mathieu Bourguignon ◽  
Vincent Wens ◽  
Veikko Jousmäki ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Disease Duration ◽  
Friedreich Ataxia ◽  
Rank Correlation ◽  
Specific Marker ◽  
Healthy Controls ◽  
Triplet Expansion ◽  
Afferent Inputs ◽  
Genetically Determined ◽  
Spearman Rank Correlation Test

ObjectiveTo assess with magnetoencephalography the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA).MethodsNeuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics.ResultsIn both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70% to 75% lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score.ConclusionThis study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a reliable, robust, specific marker of proprioceptive impairment in FRDA.

Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

2001 ◽  
Vol 21 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Ralf Schober ◽  
Wolfram Kreß ◽  
Friedrich Grahmann ◽  
Steffen Kellermann ◽  
Petra Baum ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Triplet Expansion

scholarly journals Caspase Cleavage of Gene Products Associated with Triplet Expansion Disorders Generates Truncated Fragments Containing the Polyglutamine Tract

1998 ◽  
Vol 273 (15) ◽  
pp. 9158-9167 ◽  
Author(s):  
Cheryl L. Wellington ◽  
Lisa M. Ellerby ◽  
Abigail S. Hackam ◽  
Russell L. Margolis ◽  
Mark A. Trifiro ◽  
...  
Keyword(s):  
Gene Products ◽  
Caspase Cleavage ◽  
Triplet Expansion ◽  
Polyglutamine Tract

scholarly journals Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci

2009 ◽  
Vol 10 (1) ◽  
pp. 9 ◽  
Author(s):  
I-Cheng Chen ◽  
Hsuan-Yuan Lin ◽  
Ghin-Chueh Lee ◽  
Shih-Huan Kao ◽  
Chiung-Mei Chen ◽  
...  
Keyword(s):  
Histone Modification ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Rna Foci ◽  
Triplet Expansion

scholarly journals Cardiomyopathy in Friedreich Ataxia

2012 ◽  
Vol 27 (9) ◽  
pp. 1179-1186 ◽  
Author(s):  
R. Mark Payne ◽  
Gregory R. Wagner
Keyword(s):  
Oxidant Stress ◽  
Friedreich Ataxia ◽  
Early Death ◽  
Clinical Findings ◽  
Research Directions ◽  
Messenger Ribonucleic Acid ◽  
Iron Sulfur ◽  
Triplet Expansion ◽  
Iron Binding Protein ◽  
New Research

Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger ribonucleic acid for frataxin. Frataxin is an iron-binding protein targeted to the mitochondrial matrix. In its absence, multiple iron-sulfur-dependent proteins in mitochondria and the cytosol lack proper assembly, destroying mitochondrial and nuclear function. Mitochondrial oxidant stress may also participate in ongoing cellular injury. Although progressive and debilitative ataxia is the most prominent clinical finding, hypertrophic cardiomyopathy with heart failure is the most common cause of early death in this disease. There is no cure. In this review the authors cover recent basic and clinical findings regarding the heart in Friedreich ataxia, offer recommendations for clinical management of the cardiomyopathy in this disease, and point out new research directions to advance the field.

scholarly journals Biochemical alterations precede neurobehavioral deficits in a novel mouse model of Friedreich ataxia

2021 ◽  
Author(s):  
Marta Medina-Carbonero ◽  
Arabela Sanz-Alcazar ◽  
Elena Britti ◽  
Fabien Delaspre ◽  
Elisa Cabiscol ◽  
...  
Keyword(s):  
Mouse Model ◽  
Friedreich Ataxia ◽  
Mitochondrial Protein ◽  
Point Mutations ◽  
Antioxidant Defenses ◽  
Neurological Deficits ◽  
Biochemical Alterations ◽  
Triplet Expansion ◽  
Neurobehavioral Deficits ◽  
Partial Deficiency

Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease, caused by partial deficiency of frataxin, a mitochondrial protein. This deficiency is caused by the presence of a GAA triplet expansion in the first intron of the frataxin gene or, in some patients, by point mutations. Generating mouse models mimicking FA has been challenging, as this disease is manifested when frataxin levels are below a pathological threshold. In the present work, we have characterized a new mouse model of FA (FXNI151F) based on a pathological point mutation (I154F) present in some FA patients. These mice present very low frataxin levels in all tissues and display neurological deficits resembling those observed in FA patients. We have also observed decreased content of components from OXPHOS complexes I and II, decreased aconitase activity, and alterations in the antioxidant defenses. Remarkably, these biochemical alterations precede the appearance of neurological symptoms and present a different profile in heart and brain or cerebellum. The FXNI151F mouse is an excellent tool for analyzing the consequences of frataxin deficiency in different tissues and for testing new therapies.

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