La enfermedad de Huntington (HD) es un trastorno neurodegenerativo que incluye manifestaciones motoras, psiquiátricas y cognitivas con síntomas típicos en los años cuarenta. Un porcentaje de pacientes puede ser una excepción a esto y manifestar síntomas más tarde.
El estudio permitió conocer que el diagnóstico de HD de inicio tardío (LoHD) puede ser un desafío, debido a su lenta progresión, el desconocimiento de las manifestaciones entre los pacientes y, en muchos casos, la sintomatología leve que no requiere atención médica.
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Enfermedad de Huntington de inicio tardío: Características fenotípicas y genotípicas de 10 casos en Argentina
(Late Onset Huntington Disease: Phenotypic and Genotypic Characteristics of 10 Cases in Argentina.)
Rojas NG1, Ziliani JE1, Cesarini ME2, Etcheverry JL2, Da Prat GA2,3, McCusker E4, Gatto EM2,3.
Abstract
BACKGROUND:
Huntington's disease (HD) is a neurodegenerative disorder that includes motor, psychiatric and cognitive manifestations with typical onset of symptoms is in the forties. A percentage of patients (4.4% - 11.5%) may be exceptions to this and manifest symptoms later (>60 years old). Diagnosis of Late onset HD (LoHD) can be a challenge, due to the low suspicion of the disease at this age.
OBJECTIVE:
To review the genotype and phenotype of LoHD in an Argentinian cohort.
METHODS:
We reviewed the medical records and genetic testing of a total of 95 individuals with clinical and molecular diagnosis of Huntington's disease, based on 2 institution's registry.
RESULTS:
Among our HD cohort, 10 patients (10.52%) had LoHD, with variable results regarding family history. The average of repetitions of the expanded allele was 40 (range 38-44). All cases had mild motor symptoms at onset.
CONCLUSIONS:
Late onset HD can be a diagnostic challenge, due to its slow progression, unawareness of manifestations among patients and in many cases, mild symptomatology that does not warrant medical attention.
PMID:31045517
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