Short communicationSporadic Parkinson disease and Amyotrophic Lateral Sclerosis complex (Brait–Fahn–Schwartz Disease)
Introduction
Extrapyramidal signs and symptoms due to nigrostriatal dysfunction have been reported in patients with Amyotrophic Lateral Sclerosis (ALS) [1], [2], [3], [4], [5]. However, outside the known ALS-Parkinson-Dementia complex (ALS-PD) of the Guam and Kii Peninsula of Japan, the comorbidity of Parkinson's disease and ALS is rare. This uncommon neurodegenerative complex was first described by Brait et al. [6]. The Parkinson's disease-ALS complex (also termed with the eponym Brait–Fahn–Schwartz disease [4]) clinically presents itself with a levodopa-responsive parkinsonism followed by ALS, and can either be sporadic or familial [6], [7], [8].
Here, we report the clinical, laboratory and imaging studies of two patients with idiopathic Parkinson's disease and ALS, and discuss the nosologic and pathogenic implications of these two rarely overlapping neurodegenerative disorders.
Section snippets
Case reports
The first patient (A) was a 55 year-old woman with a six-month history of resting tremor and cogwheel rigidity of her right hand and arm and a moderate bradykinesia; her medical and genetic history was negative. Familial history for extrapyramidal disorders was also negative. The diagnostic workup was performed in another hospital and a diagnosis of Parkinson's disease (PD) was made, based on the clinical presentation and a good response to a levodopa load. Other causes of parkinsonism were
Discussion
We have presented two patients with an idiopathic Parkinson's disease (PD) who later, in the course of their disease, developed Amyotrophic Lateral Sclerosis. This neurodegenerative complex, indeed very rare, has been given the eponym of Brait–Fahn–Schwartz disease [4], [6]. Growing evidence suggests that this association is in fact not coincidental, as it may share a common pathogenic basis [4], [7].
Parkinsonism may associate with motor neuron disease (MND) in various neurodegenerative
Conflict of interest
The authors declare that they have no conflict of interest.
Acknowledgments
We thank Mr Martin Russell for the revision of the English language.
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