Vásquez-Cerdas M, Morales-Montero F

Language: Spanish
References: 49
Page: 34-42
PDF size: 129.45 Kb.

ABSTRACT

Introduction and aims: Huntington's disease (HD) is the most common neurodegenerative inherited disease. It is caused by an unstable expansion of the CAG repeat in the HTT gene. HD is characterized by cognitive impairment, movement, psychiatric and behavioral disorders. An increasing number of diseases can mimic the presentation of HD. It is estimated that between 1 and 7% of symptomatic patients and with suggestive signs of HD are negative for the HD mutation, and it is said that they exhibit similar phenotypes to HD or phenocopies of HD. The aim of the study is to contribute to the accurate classification of Costa Rican patients with a clinical picture suggestive of HD but without CAG expansion in the HTT gene.
Methodology. A total of 11 Costa Rican patients, eight men and three women, were screened for repeat expansions in the JPH3, TBP, ATN1, ATX1, ATX2, ATX3, and CACNA1A genes. Molecular analysis was carried out by polymerase chain reaction (PCR) and electrophoresis in denaturing ureaacrylamide gels followed by silver nitrate staining.
Results. All of the patients studied with a similar phenotype to HD were negative (mutation absent) for the repeat expansion in the genes JPH3, TBP, ATN1, ATX1, ATX2, ATX3 and CACNA1A.
Conclusions. The genetic cause of the disease in the analyzed patients remains unknown, and a definitive clinical diagnosis or classification could not be established. This highlights the complexity of the differential diagnosis in HD phenocopies, indicating that movement disorders with HD-like phenotypes are clinically and genetically heterogeneous.

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