Supplementary Material for: 'Brait-Fahn-Schwartz Disease: A Unique Co-occurrence of Parkinson's Disease and Amyotrophic Lateral Sclerosis.'

Background: The Parkinson's disease-amyotrophic lateral sclerosis complex typically manifests as levodopa-responsive parkinsonism followed by ALS. It is extremely rare for PD and ALS to coexist without other neurological disorders. Named after the scientists who first described this overlap of two neurodegenerative conditions is referred as Brait-Fahn-Schwartz disease. The most notable characteristics that set this disorder apart from Guam parkinsonism-dementia complex, are the positive and persistent response to dopaminergic drug therapy and the order in which progressive parkinsonian symptoms and signs appear before the onset of ALS. Given its variable presentations, increasing rarity and the lack of any diagnostic test, it poses a diagnostic challenge. Case presentation: We report a rare case of a 55 years old Pakistani male, who presented to us with progressive quadriparesis, which was spastic in nature in lower limbs and flaccid in upper limbs, along with preceding cardinal features of idiopathic Parkinson’s disease. We arrived at our diagnosis after rigorous history taking and physical examination with supportive aid of radiological imaging and electromyography. On presentation, spasticity had disabled the patient to the extent of requiring one-person support to walk. However, with only 2 weeks on our treatment plan, targeting both PD and ALS, he could walk unaided. Since there is currently no cure available for either PD or ALS, all available treatment focuses on improving quality of life, which we achieved in our patient. Conclusion: This case is unique in being the first incidence of PD-ALS complex in a novel geographic region such as Pakistan where the genetic testing and cost constraints limit the diagnosis of rare disorders. The coexistence of extrapyramidal symptoms and pyramidal symptoms is uncommon. In such situations, physicians may overlook one group of symptoms, potentially leading to a misdiagnosis. This case highlights the value of a thorough physical examination, electrodiagnostic studies and suggest the association of PD and ALS. This case demonstrates the significance of understanding when PD symptoms start to appear in patients with ALS and the need to start dopaminergic therapy in those who had Parkinsonism features before ALS to alleviate the suffering of an individual, and enhances quality of life