Navegação Ciências Biológicas por Autor "Jardim, Laura Bannach"
Resultados 1-20 de 30
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Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)
(2009) [Artigo de periódico]Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and seizures. The disease is caused by a large ATTCT repeat expansion in the ATXN10 gene. The ... -
Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's oil
(2000) [Artigo de periódico]A adrenoleucodistrofia ligada ao X (X-ALD) é uma desordem hereditária do metabolismo peroxissomal, bioquimicamente caracterizada pelo acúmulo de ácidos graxos de cadeia muito longa (‘very long chain fatty acids”- VLCFA) ... -
Cockayne syndrome : report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation
(2000) [Artigo de periódico]A síndrome de Cockayne (CS) é uma desordem autossômica recessiva caracterizada por nanismo, déficit de crescimento, deterioração neurológica, fotossensibilidade e uma progressiva aparência facial característica. Neste ... -
Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese
(2018) [Artigo de periódico]Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: ... -
Ct hypodensity on cerebral white matter in wilson's disease
(1991) [Artigo de periódico]A doença de Wilson é desordem autossômica recessiva do metabolismo do cobre, cujas manifestações sistêmicas são secundárias ao acúmulo de cobre nos tecidos, especialmente no fígado e no SNC. Neste, as lesões estruturais ... -
Dierences in spontaneous speech fluency between Parkinson’s disease and spinocerebellar ataxia type 3
(2023) [Artigo de periódico]Background: The basal ganglia and cerebellum both have a role in speech production although the eect of isolated involvement of these structures on speech fluency remains unclear. Objective: The study aimed to assess the ... -
Uma experiência terapêutica no manejo da doença da urina do xarope do bordo
(1995) [Artigo de periódico]Relata-se aqui o manejo terapêutico realizado em um paciente portador da Doença da Urina do Xarope de Bordo, com diagnóstico e encaminhamento tardios (2 e 5 meses). Uma vez que o paciente apresentava níveis extremamente ... -
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
(2020) [Artigo de periódico]Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine ... -
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease : lessons from Brazil and Portugal
(2014) [Artigo de periódico]Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing ... -
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
(2020) [Artigo de periódico]Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the ... -
Genomic analysis of Brazilian patients with fabry disease
(2007) [Artigo de periódico]Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, ... -
Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases
(2019) [Artigo de periódico]Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many ... -
Machado-Joseph disease enhances genetic fitness : a comparison between affected and unaffected women and between MJD and the general population
(2008) [Artigo de periódico]Background: Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little ... -
Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
(2019) [Artigo de periódico]Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) ... -
A model for the dynamics of expanded CAG repeat alleles : ATXN2 and ATXN3 as prototypes
(2023) [Artigo de periódico]Background: Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age of onset of symptoms (AO) correlates with the CAGexp length. Repeat instability ... -
Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment
(2010) [Artigo de periódico]Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ... -
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy : a case control study on a clinical, neurophysiological and biochemical characteristics
(2014) [Artigo de periódico]Background: Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of ... -
Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado–Joseph disease
(2012) [Artigo de periódico]Background: Age at onset (AO) in Machado–Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates ... -
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
(2022) [Artigo de periódico]Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the ... -
Occupational therapy in spinocerebellar ataxia type 3 : an open-label trial
(2010) [Artigo de periódico]Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical ...
