The Biochemical Changes in Parkinsonism-Dementia-Exploring Theamyotrophic Lateral Sclerosis Complex: A Clinical Case Study and Implications for Diagnosis and Treatment
Keywords:
Parkinsonism, Dementia, Amyotrophic Lateral Sclerosis, Neurodegenerative DiseaseAbstract
The Parkinsonism-Dementia-Amyotrophic Lateral Sclerosis (PD-ALS) complex, initially identified in Guam, poses diagnostic challenges due to its rarity. This study presents a clinical case to elucidate the nosological and pathogenetic implications of this neurodegenerative disease, particularly in populations where this association is unexpected. A patient of Iraqi origin manifested systemic symptoms evolving over 5 years, followed by cognitive alterations and subsequently developing gait disturbances and motor symptoms suggestive of parkinsonism with atypical features. Motor neuron disease signs were also observed, confirmed by extension studies revealing the involvement of both upper and lower motor neurons. A mutation in the POLG gene associated with mitochondrial depletion syndrome was identified. Diagnosing the PD-ALS complex remains clinically challenging, with molecular mechanisms yet to be fully understood. Common genes associated with parkinsonism and amyotrophic lateral sclerosis have been ruled out, and attempts to localize the locus have yielded inconclusive results. Unfortunately, the prognosis remains fatal, and there are no disease-modifying treatments available. This case underscores the importance of further research into this complex neurodegenerative disease and the need for improved diagnostic and therapeutic strategies. The association between parkinsonism-dementia and ALS is an infrequent entity and difficult to diagnose clinically for inexperienced doctors, for whom it represents a diagnostic challenge. Due to the unfavorable prognosis of the disease and the functional limitation it confers, many times, it is not possible to conclude the diagnosis or provide adequate follow-up. The importance of knowing the clinical data of motor neuron disease and the warning of Parkinsonism has made it possible to standardize the diagnostic conduct from the first evaluation.
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Copyright (c) 2024 Ahmed Kareem Thamer, Bahaulddin Jafar Seger, Gufran Abbas Isewid, Ameer Salam Hasan
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