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Chorea-acanthocytosis: report of a family and neuropathological study of two cases
M E Alonso1, F Teixeira, G Jimenez
1Department of Genetics, National Institute of Neurology and Neurosurgery, Mexico, D.F.
Insights
This study details a rare, progressive neurological disorder in siblings, marked by chorea and leading to death in midlife. Autosomal recessive inheritance is suspected for this neurodegenerative condition.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Progressive neurological illnesses can manifest in midlife.
- Chorea is a key symptom in certain neurodegenerative disorders.
- Consanguinity in parents can increase the risk of autosomal recessive conditions.
Purpose of the Study:
- To describe a unique family with a progressive, midlife-onset neurological illness.
- To investigate the clinical and pathological features of this disorder.
- To determine the likely mode of inheritance.
Main Methods:
- Clinical observation of three affected siblings.
- Neurological examination and symptom documentation.
- Muscle biopsy and sural nerve studies.
- Postmortem examination of brain tissue (caudate nucleus, putamen).
Main Results:
- The illness presented in midlife with chorea, progressing to death in the fourth decade.
- Erythrocyte acanthocytosis was observed in the proband.
- Neurogenic muscular atrophy and reduced large myelinated axons were found.
- Postmortem findings included atrophy, neuronal loss, and gliosis in the basal ganglia (caudate nucleus and putamen).
Conclusions:
- The clinical and pathological findings suggest a distinct neurodegenerative disorder.
- Autosomal recessive inheritance is the likely genetic basis for this condition in the described family.
- The basal ganglia are significantly affected in this progressive choreiform disorder.
Abstract:
We report three siblings, offspring of normal consanguineous parents, with a progressive neurological illness that began in midlife and was characterized primarily by chorea and leading to death in the fourth decade. The proband had erythrocyte acanthocytosis with normal serum beta-lipoprotein. Biopsy of left gastrocnemius muscle showed neurogenic muscular atrophy. There was a decrease in the numbers of large myelinated axons of the sural nerve. Postmortem examination of two cases showed marked atrophy, neuronal loss and gliosis of the caudate nucleus and putamen. Autosomal recessive inheritance is likely in this family.