Affiliations: [a] Fundación Dr Cesar R. Burry, La Plata, Buenos Aires, Argentina
| [b] Instituto Neurociencias Buenos Aires (INEBA), Buenos Aires, Argentina
| [c] Sanatorio de La Trinidad Mitre, Buenos Aires, Argentina
| [d] The University of Sydney, School of Medicine Westmead and Neurology Department, Westmead Hospital, Sydney, NSW, Australia
Correspondence to: Emilia M. Gatto, MD, Instituto Neurociencias Buenos Aires (INEBA), Departamento de Neurología – área de movimientos anormales, Guardia Vieja 4435, CABA, Buenos Aires, Argentina. Tel.: (+54) 11 4867 7700; E-mail: [email protected].
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.