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Autopsy case of concurrent Huntington's disease and neurofibromatosis type 1
Ito Kawakami1, Omi Katsuse, Naoya Aoki
1Department of Psychiatry, Graduate School of Medicine, Yokohama City University School of Medicine, Yokohama, Japan; Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Insights
This autopsy case details concurrent Huntington's disease (HD) and neurofibromatosis type 1 (NF1) in a Japanese woman. The study confirmed polyglutamine inclusions in the brain, suggesting NF1 may accelerate HD pathology.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- This report presents an autopsy case of a Japanese woman with a family history of neurofibromatosis type 1 (NF1) and Huntington's disease (HD).
- The patient was diagnosed with NF1 at age 24 and later developed symptoms consistent with HD, including behavioral changes, rigidity, and involuntary movements.
Observation:
- The patient exhibited progressive neurological decline, leading to an apallic state and death at age 60.
- Post-mortem examination revealed significant brain atrophy, particularly in the frontal and temporal cortices and striatum.
- Polyglutamine inclusions, characteristic of HD, were widespread in the cerebral cortex, amygdala, hippocampus, and notably, the cerebellum.
Findings:
- The diagnosis of HD was confirmed by genetic testing revealing expanded cytosine-adenine-guanine repeats.
- While central nervous system features of NF1 were absent, the concurrence of NF1 might have accelerated HD pathology.
- This is the third reported case of concurrent HD and NF1 globally and the first to confirm polyglutamine inclusions post-mortem.
Implications:
- This case highlights the complex interplay between genetic disorders and their impact on neurodegeneration.
- Understanding the potential acceleration of HD by NF1 could inform future diagnostic and therapeutic strategies.
- Further research into co-occurring neurodegenerative and genetic conditions is warranted to elucidate shared or interacting pathomechanisms.
Abstract:
We report here an autopsy case of concurrent Huntington's disease (HD) and neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease. The patient was a Japanese woman with a significant hereditary burden: seven of her family members within four generations were affected by either NF1 or concurrent HD and NF1. She was diagnosed as having NF1 at age 24. At age 40, she showed signs of irritability, aggressive and childish behaviour, which became progressively worse. At age 48, rigidity and spastic gait were observed. One year later, choreoathetoid involuntary movements became apparent. Diagnosis of HD was made by identification of the abnormally expanded cytosine-adenine-guanine repeats in the Huntington's disease gene. Her condition deteriorated gradually to an apallic state and she died at age 60. Post-mortem examination revealed extensive brain atrophy, which was particularly severe in the frontal and temporal cortices and the striatum. The degree of neurodegenerative change seemed to correspond to grade IV. Polyglutamine positive inclusions were seen frequently in all layers of the cerebral cortex and in the amygdala and hippocampus. Inclusions were also present in the striatum, but there were fewer than in the cortex. Remarkably, neuronal intranuclear inclusions were present in the cerebellum, although they are usually not seen in HD. Features associated with the central nervous system involvement of NF1 were not found in the brain, but HD pathology might have been accelerated by the concurrence of NF1. This is the third report of a case with concurrent HD and NF1 in the world, and the first study in which occurrence of polyglutamine inclusions was confirmed on post-mortem examination.
