Analysis of IT15 gene, brain magnetic resonance imaging, and pathology features from one family with Huntington’s disease

Le résumé fourni par la source

Objective To analyse the IT15 gene, brain CT, MRI, and pathology features from one family with Huntington’s disease (HD). Methods Nest-PCR method was used in two patients with HD from this family to amplify the IT15 gene of CAG repetitive sequence.The proband underwent CT, MRI, transcranial ultrasound (TCS) examinations, autopsy and pathological detection. Results The number of two HD patients with CAG repeats was greater than 40, and early proband head CT showed brain atrophy, ventricular system expansion and sulci cistern widening, deepening.Patients with advanced head MRI showed global brain atrophy, crack-like signs and hummingbirds.TCS showed that hypoecho evenly distributed in the substantia nigra, and slightly stronger echo was seen in the bilateral putamen at the hypothalamic level. Whole-brain atrophy and ventricular expansion were found in autopsy.Pathology showed that the neurons were decreased in the outer cortex, caudate nucleus and putamen with gliosis. Conclusion The IT15 gene in the patients with HD contains expanded CAG repeats. MRI and brain pathology show cerebral atrophy, especially in the frontal, temporal, parietal lobe, caudate nucleus, putamen and midbrain, with the proliferation of glial cells. Key words: Huntington disease; Nerve tissue proteins; Magnetic resonance imaging; Brain; Atrophy

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.