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Huntington's disease like-2 neuropathology.

Penny E Greenstein¹, Jean-Paul G Vonsattel², Russell L Margolis^3,4

¹Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

Movement Disorders : Official Journal of the Movement Disorder Society

|May 23, 2007

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Huntington's disease like-2 (HDL-2) is a neurodegenerative disorder similar to Huntington's disease (HD). Neuropathology reveals distinct cortical involvement and parkinsonism, differing from HD's typical chorea.

Area of Science:

Neuroscience
Genetics
Neuropathology

Background:

Huntington's disease like-2 (HDL-2) is an autosomal dominant neurodegenerative disorder presenting with symptoms overlapping Huntington's disease (HD).
Limited neuropathological data exists for HDL-2, with only one prior case report.
This study expands the neuropathological understanding of HDL-2 by examining two new molecularly confirmed cases.

Observation:

Two patients with molecularly confirmed HDL-2 were analyzed for clinical presentation and neuropathology.
Clinical features included psychiatric symptoms (suspiciousness, depression), visual disturbances, parkinsonism (increased tone, rigidity), but notably lacked choreoathetosis.
Neuropathological examination revealed degeneration in the caudate nucleus and putamen, with distinct cortical atrophy patterns (frontal, temporal, occipital, parietal) and ubiquitin-positive neuronal intranuclear inclusions (NII).

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Findings:

HDL-2 patients exhibited significant frontal inhibition, parkinsonism, and a lack of choreiform movements, distinguishing them from typical HD.
Pathological similarities to HD were observed in the neostriatum, but HDL-2 showed potentially greater focal cortical involvement, including the occipital lobe.
The presence of African ancestry was noted in the reviewed HDL-2 cases.

Implications:

This research provides crucial neuropathological insights into HDL-2, aiding in its differentiation from HD.
Understanding the distinct pathology of HDL-2 can inform diagnostic criteria and potential therapeutic strategies.
Further research into HDL-2 genetics and its specific neuropathological mechanisms is warranted.