An autopsy case with clinically and molecular genetically diagnosed Huntington's disease with only minimal non-specific neuropathological findings

An autopsy case with clinically and molecular genetically diagnosed Hunting on's disease (HD) accompanied with minimal non-specific neuropathological f eatures was reported. When the patient was 45 years old, he had faulty memo ry, mood swing, personality change and agitation. Neurological and psychiat ric examinations revealed choreoathetoid movements in Limbs and trunk, gene ralized hyperreflexia and mental deterioration. However. cerebellar ataxia and muscle rigidity were not disclosed. Neuroimaging study did not show a d efinite atrophy of heads of caudate nuclei. Neuroacanthocytosis and Wilson' s disease were ruled out by the peripheral blood examination and serum Cu a nd ceruloplasmin examination. At the age of 55 he died of pneumonia. Post-m ortem examination revealed minimal non-specific neuropathological features for HD (Vonsattel's grade 0), that is, no visible fibrillary gliosis in the striatum, and few neuronal loss and only proliferation of astrocytes (astr ocytosis) in the striatum. Molecular-genetic study the patient's brain tiss ues and his youngest son's blood was performed. These studies revealed 40 C AG repeats in the patient, 56 CAG repeats in his youngest son. These result s suggest they may be PID. Vonsattel et al. [1998] insist that grade 0 comp rises 1% of all HD brains, and grade 1 comprises 4% of all HD brains. But w e could not find any reports in which the clinical and neuropathological fe atures were described in detail on the cases with clinically and molecular genetically diagnosed HD without specific pathological findings. Therefore, we present in detail the clinical and neuropathological features of such c ase.