Diagnóstico de Ataxia Espinocerebelosa tipo 3 (Enfermedad de Machado-Joseph) en Chile

C, Marcelo Miranda

doi:10.4067/s0034-98872015000100019

Cited by 6 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Entre los casos con patrón autosómico recesivo, 7 casos de ataxia de Friedreich y 2 casos de ARSACS. Nuestros hallazgos se correlacionan con lo descrito en la literatura, siendo SCA3 de las ataxias autosómicas dominantes más prevalente (aunque varía según regiones) 7,8 , y la ataxia de Friedreich, la ataxia autosómica recesiva más común 9 .…”

Section: Discussionunclassified

Características clínicas de 63 pacientes con ataxia

2018

View full text Add to dashboard Cite

show abstract

Section: Discussionunclassified

Características clínicas de 63 pacientes con ataxia

2018

View full text Add to dashboard Cite

show abstract

“…About Latin America, it is well known that Brazil has the highest frequency of MJD/SCA3, although the information about other countries is still limited. Venezuela also has a considerable relative frequency of 25% [11], followed by Chile (20%) [12]; Argentina (20%) [13]; Mexico (12%) [14] and Cuba (1.2%) [15].…”

mentioning

confidence: 99%

Spinocerebellar Ataxia type 3 is rare in the Peruvian Population

Cornejo‐Olivas¹,

Solis-Ponce²,

Araujo-Aliaga³

et al. 2022

Preprint

View full text Add to dashboard Cite

Spinocerebellar ataxia type 3 or Machado-Joseph Disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare institution in Peru. In a cohort of 341 individuals with clinical ataxia diagnosis, seven MJD/SCA3 probands were identified and their pedigrees extended, detecting a total of 18(5%) MJD/SCA3 cases. Out of 682 alleles from this cohort, the 23-CAG repeat was the most common ATXN3allele (32.1%), followed by the 14-CAG repeat allele (26%). Normal alleles ranged from 12 to 38 repeats while pathogenic alleles ranged from 61-75 repeats. We identified 101 large normal (LN) alleles (14.8%). Five out of seven families declared an affected family member traced back to foreign countries (England, Japan, China, and Trinidad and Tobago). MJD/SCA3 patients showed ataxia, accompanied by pyramidal signs, dysarthria and dysphagia as well as abnormal oculomotor movements. In conclusion, ATXN3 allelic distribution in non-MJD/SCA3 patients with ataxia is similar to the distribution in normal individuals around the world, whereas LN allele frequency reinforces no correlation with the frequency of MJD/SCA3. Evidence of an abnormal MJD/SCA3 phenotype was not found. Further haplotypes are required to confirm the foreign origin of MJD/SCA3 in the Peruvian population.

show abstract

“…Cases where causative mutations have been identified include hereditary dementias (Sinning et al 2010), neuromuscular disease (Kleinsteuber et al 2000;Castiglioni et al 2015), parkinsonism (Perez-Pastene et al 2007;Behrens et al 2010), chorea , and spinocerebellar ataxia (Miranda 2015).…”

mentioning

confidence: 99%