scholarly journals More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

2016 ◽  
Vol 6 (0) ◽  
pp. 368 ◽  
Author(s):  
Toni S. Pearson
Keyword(s):  
Movement Disorders ◽  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

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.

scholarly journals Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

2017 ◽  
Vol 18 (1) ◽  
pp. 52-56
Author(s):  
Tahira N Choudry ◽  
David Hilton-Jones ◽  
Graham Lennox ◽  
Henry Houlden
Keyword(s):  
Autosomal Recessive ◽  
Age Of Onset ◽  
Axonal Neuropathy ◽  
Elevated Serum ◽  
Cerebellar Atrophy ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia ◽  
Oculomotor Apraxia ◽  
Ataxia With Oculomotor Apraxia

A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich’s ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years.The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.

Mutations in PEX10 are a cause of autosomal recessive ataxia

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Luc Régal ◽  
Merel S ◽  
Nathalie Goemans ◽  
Ronald JA Wanders ◽  
Linda De Meirleir ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

scholarly journals Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

2005 ◽  
Vol 77 (3) ◽  
pp. 430-441 ◽  
Author(s):  
Anna H. Hakonen ◽  
Silja Heiskanen ◽  
Vesa Juvonen ◽  
Ilse Lappalainen ◽  
Petri T. Luoma ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
European Origin ◽  
Common Cause ◽  
Autosomal Recessive Ataxia ◽  
Mitochondrial Dna Polymerase

Vestibular findings in autosomal recessive ataxia

2013 ◽  
Vol 18 (2) ◽  
Author(s):  
Bianca Simone Zeigelboim ◽  
Hélio Afonso Ghizoni Teive ◽  
Hugo Amilton Santos de Carvalho ◽  
Edna Márcia da Silva Abdulmassih ◽  
Jair Mendes Marques ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

scholarly journals Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population

2020 ◽  
Vol 15 (2) ◽  
pp. 86
Author(s):  
Faruk Incecik ◽  
OzlemM Herguner ◽  
NeslihanO Mungan
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Turkish Population ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review

2021 ◽  
Vol 23 (1) ◽  
pp. 153-160
Author(s):  
Sara Uccella ◽  
Livia Pisciotta ◽  
Mariasavina Severino ◽  
Enrico Bertini ◽  
Thea Giacomini ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Diagnostic algorithm for autosomal recessive ataxia

2019 ◽  
Vol 119 (9) ◽  
pp. 74
Author(s):  
E. P. Nuzhnyi ◽  
N. Yu. Abramycheva ◽  
S. A. Klyushnikov ◽  
Yu. A. Seliverstov ◽  
A. S. Vetchinova ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Diagnostic Algorithm ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

scholarly journals Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

1999 ◽  
Vol 57 (1) ◽  
pp. 1-5 ◽  
Author(s):  
IDA V.D. SCHWARTZ ◽  
LAURA B. JARDIM ◽  
ANA C.S. PUGA ◽  
SÉRGIO COCOZZA ◽  
SANDRA LEISTNER ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Friedreich Ataxia ◽  
Recessive Ataxia ◽  
Atypical Case ◽  
Autosomal Recessive Ataxia ◽  
Intron 1 ◽  
Molecular Studies ◽  
Atypical Manifestations ◽  
Gaa Expansion ◽  
Tendon Reflexes

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich's ataxia is broader than previously recognised and includes cases with intact tendon reflexes.

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: Novel mutations in SETX

Neurology ◽  
2006 ◽  
Vol 66 (10) ◽  
pp. 1580-1581 ◽  
Author(s):  
T. Asaka ◽  
H. Yokoji ◽  
J. Ito ◽  
K. Yamaguchi ◽  
A. Matsushima
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
Novel Mutations ◽  
Autosomal Recessive Ataxia
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