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This work examines the overlap between frontotemporal dementia and motor neuron disease, focusing on clinical features and management strategies.

June 27, 2026Discover Mental Health0 citationsOpen Access

Clinical and literature insights into the frontotemporal dementia and motor neuron disease spectrum

FKFaezeh KhorshidianRoozbeh Hospital ZVZahra VahabiIran University of Medical Sciences SRSetareh RassaTehran University of Medical Sciences

Key Points

This work examines the overlap between frontotemporal dementia and motor neuron disease, focusing on clinical features and management strategies.
Described a case of a 69-year-old patient with neurodegenerative symptoms, emphasizing clinical evaluation.
Utilized brain MRI, electrophysiological studies, and TRODAT SPECT for diagnosis.
Conducted a literature review on TDP-43 pathology, C9orf72 mutations, and treatment options.
The patient was diagnosed with frontotemporal dementia with probable motor neuron disease due to an array of clinical symptoms.
Electrophysiological studies indicated probable motor neuron disease, while neuroimaging revealed diffuse cerebral atrophy.
Current symptomatic treatment with novel therapies like antisense oligonucleotides and measurement of neurofilament light chain shows promise.

Abstract

BACKGROUND: Frontotemporal dementia represents a heterogeneous group of neurodegenerative disorders primarily affecting the frontal and temporal lobes. The overlap between FTD and motor neuron disease is increasingly recognized, presenting a complex clinical syndrome characterized by progressive cognitive, behavioral, and motor decline. CASE PRESENTATION: We describe a 69-year-old patient with a 4-year history of excessive ambulation. Over the last year, behavioral changes including disorganized conduct, irritability, spitting, and cold water foot immersion developed. The patient experienced compelling auditory hallucinations driving her to walk continuously for up to 10 h per day. Four months prior to admission, gait impairment with frequent falls, along with hyperorality developed. Neurological examination revealed asymmetric mild weakness, marked muscle atrophy of facial and limb muscles, hyperreflexia, and impaired postural control. Brain MRI showed diffuse cerebral atrophy; electrophysiological studies indicated probable motor neuron disease; and TRODAT SPECT demonstrated impaired presynaptic dopaminergic function bilaterally, consistent with parkinsonism. Final diagnosis was frontotemporal dementia with probable motor neuron disease. LITERATURE REVIEW: A review of the literature highlights the clinical, radiological, and molecular features of FTD-MND overlap, emphasizing the role of TDP-43 pathology, C9orf72 mutations, and the need for multidisciplinary management. Current strategies are symptomatic, though novel therapies such as antisense oligonucleotides and biomarkers like neurofilament light chain (NfL) show promise. CONCLUSIONS: This case highlights the diagnostic complexity of FTD with MND overlap syndrome, emphasizing the need for comprehensive clinical, neuroimaging, and electrophysiological evaluation. Multimodal treatment approaches focusing on behavioral symptoms and functional support are essential for optimizing patient outcomes.

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