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Published on: July 14, 2023
Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with
Matthias Preusser1, Melitta Kitzwoegerer, Herbert Budka
1Institute of Neurology, Medical University of Vienna, Vienna, Austria. matthias.preusser@meduniwien.ac.at
Insights
This study details a patient with hypoparathyroidism who developed dementia and parkinsonism, exhibiting brain calcification and multiple system atrophy (MSA) neuropathology. Further research is needed to correlate alpha-synucleinopathy with Fahr's syndrome.
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Idiopathic brain calcification has been linked to neurological disorders.
- Multiple System Atrophy (MSA) is a neurodegenerative disease characterized by alpha-synucleinopathy.
Observation:
- A female patient with a history of hypoparathyroidism since age 9 developed dementia and parkinsonism in her 50s.
- Neuropathology revealed severe Fahr-type brain calcifications and prominent MSA-type alpha-synucleinopathy.
- The patient had a healthy identical twin and no family history of neurological disease.
Findings:
- The case presents a unique co-occurrence of Fahr's syndrome and multiple system atrophy (MSA).
- Alpha-synucleinopathy was observed in conjunction with bilateral striopallidodentate calcification.
Implications:
- This case highlights a potential link between hypoparathyroidism, Fahr's syndrome, and alpha-synucleinopathy.
- Further investigation into alpha-synuclein accumulation in Fahr's syndrome is warranted to establish a definitive correlation.
- Understanding this association may offer new insights into neurodegenerative disease mechanisms.
Abstract:
Recently, a family with idiopathic brain calcification was reported, in which one family member was diagnosed with multiple system atrophy (MSA) at autopsy. We report here a case showing similar neuropathological features in a patient with longstanding hypoparathyroidism. Our female patient had a history of hypoparathyroidism with hypocalcaemia and tetany since the age of 9 years. In her 50s she developed dementia and parkinsonism. She died of myocardial infarction aged 65 years. Neuropathology showed severe brain calcifications of the Fahr type in the basal ganglia, thalami, cerebral and cerebellar white matter and dentate nuclei. Additionally, there was prominent alpha-synucleinopathy of the multiple system atrophy type (MSA). The patient has a healthy identical twin and there is no family history of hypoparathyroidism or neurological disease. Data on alpha-synuclein accumulation in various cases of Fahr's syndrome are needed to establish the correlation between alpha-synucleinopathy and bilateral striopallidodentate calcification.
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