ABSTRACT
Huntington's disease (HD) is notably difficult to diagnose in the early stages. One reason is that the early clinical manifestations of HD vary widely and sometimes have an atypical onset. In this paper we primarily sought information on affected patients who initially presented with movement disorders other than chorea. We also investigated atypical motor presentations in relation to triplet CAG expansions. After reviewing the clinical records of two neurological centres, we identified patients with a final, documented diagnosis of HD and selected for study 205 patients according to their onset of motor manifestations. CAG repeats were analysed. Of the 205 patients studied, 15 had atypical motor symptoms at onset. In this group we identified three types of initial clinical manifestations other than chorea: parkinsonism, ataxia and dystonia. We conclude that HD patients may have different motor manifestations at the initiation of the illness. Patients with atypical movement disorders in the early stages have larger CAG expansions and an earlier age at onset than HD patients with typical onset chorea.
Subject(s)
Huntington Disease/genetics , Adolescent , Adult , Age of Onset , Ataxia/genetics , Child , Chorea/genetics , DNA/blood , Data Interpretation, Statistical , Dystonia/genetics , Female , Humans , Huntington Disease/diagnosis , Magnetic Resonance Imaging , Male , Middle Aged , Parkinsonian Disorders/genetics , Trinucleotide Repeat ExpansionABSTRACT
An investigation was carried out to search for proteins with preferential affinity for single-stranded DNA in nuclei of testicles, white bodies and optic lobes of Octopus Vulgaris Lam, as examples of organs characterized by high meiotic, high mitotic, and no or low mitotic activity, respectively. The results obtained are the following. Single strand binding proteins are present in testicles nuclei and, in much lower amount, in white bodies nuclei. Testicles cells have at least three protein species with affinity for single-stranded DNA, which, on the basis of elution characteristics and electrophoretic mobility, appear to be specific of testicle tissue. No single strand binding proteins could be found in Octopus optic lobes nuclei.
