Late Onset Huntington Disease: Phenotypic and Genotypic Characteristics of 10 Cases in Argentina

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.

Choreo‐Athetosis and Ataxia as Leading Features in a Case of Erdheim‐Chester Disease

“…3 The presence of late-onset chorea, gait ataxia, and cognitive and psychiatric abnormalities in the elderly with chronic degenerative progression require several differential diagnoses, including Huntington's disease-like diseases, such as SCA17, DRPLA, and C9ORF72 and some inherited ataxias. 4 The former embraces lateonset phenotypes due to reduced penetrance or low-expanded mutations. 5 Also, autoimmune and paraneoplastic diseases, basal ganglia lesions, neurodegeneration with brain iron accumulation (disorders of mineral metabolism; i.e., aceruloplasminemia, neuroferritinopathy, Fahr and Wilson diseases), and lysosomal storage disorders should be considered ( Supplementary Table S1).…”

“…Chorea has been only recently reported as associated to ECD in a single case, who presented also with questionable ferromagnetic substances overload . The presence of late‐onset chorea, gait ataxia, and cognitive and psychiatric abnormalities in the elderly with chronic degenerative progression require several differential diagnoses, including Huntington's disease–like diseases, such as SCA17, DRPLA, and C9ORF72 and some inherited ataxias . The former embraces late‐onset phenotypes due to reduced penetrance or low‐expanded mutations .…”