Objective: Explore possible links between degenerative parkinsonism and motor neuron disease

Background: A 50 year-old man developed with the cardinal features of parkinsonism.  History was significant for transient isolated psychosis.   Levodopa treatment started 4 years later significantly helped his motor features and confirmed a suspected diagnosis of Parkinson’s disease (PD).  After 6 years of symptoms he had developed motor fluctuations, wearing off phenomena, and dyskinesia.   He complained of more rapid progression of motor symptoms, but this was interpreted as advancing Parkinson’s disease.   After admission for respiratory difficulty, he was found to have diffuse fasciculations and weakness, and EMG confirmed findings supportive of amyotrophic lateral sclerosis (ALS), which were more disabling than the initial PD symptoms and led to rapid death without the ability for further genetic testing.

Method: Case Report and Literature Review

Results: Simultaneous observation of motor neuron signs and levodopa-responsive parkinsonism is rare and likely underreported.  “Brait-Fahn-Schwarz disease” was an early name for this syndrome and less than 100 cases are reported in the literature, with heterogeneous causes.   In isolated populations, both genetic or environmental risks may cause a multisystemic neurodegenerative syndrome, which was not the case with this patient.   Some genetic risks factors have been described in similar cases including SOD1, VCP, C9orf72, DJ-1.

Conclusion: Symptoms of developing ALS can be difficult to distinguish in advancing PD, particularly when one disease starts during the course of the other. Common causes leading to both disorders are becoming more understood, but overlapping causes of neurodegeneration may be possible.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/case-report-co-occurrence-of-motor-neuron-disease-and-parkinsonism/