Ignazio Giuseppe Arena
Clinical characteristics and outcome of Mitochondrial Parkinsonism in patients with PMM
Autori
- IGNAZIO GIUSEPPE ARENA (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
- MATTIA PORCINO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
- GRAZIA MARIA IGEA FALCONE (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
- CRISTIAN USBERGO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
- ALESSIA PUGLIESE (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
- CARMELO RODOLICO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
- OLIMPIA MUSUMECI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGIA)
Presentatore
IGNAZIO GIUSEPPE ARENA
Modalità
Poster Session
Abstract
“Primary mitochondrial disorders (PMDs) encompass a diverse group of conditions resulting from impaired mitochondrial respiratory chain function, which can affect both the central and peripheral nervous systems. Parkinsonism has been identified as a notable manifestation in PMDs. The purpose of this study is to detail the clinical manifestations of parkinsonism observed within our group of PMD patients.
We reviewed all the medical records of patients within our PMD cohort who exhibited parkinsonian features and retrospectively analysed the extrapyramidal symptoms and associated signs, the diagnostic tests conducted, the genetic findings, clinical scales performed and treatment outcomes during follow up.
10 patients were deeply analysed. The initial extrapyramidal symptom most frequently reported was a unilateral tremor. The age symptom onset varied widely (40-70 y.o.). DaTscan imaging predominantly revealed a diminished or absent striatal dopamine uptake, often with asymmetrical patterns. The most common concurrent associated symptoms included progressive external ophthalmoplegia (10/10), myopathy (10/10), ataxia (3/10), peripheral neuropathy (3/10), and optic atrophy (3/10). Genetic testing revealed the presence of multiple mtDNA deletions and mutations in POLG1, TWNK, and OPA1 genes. Notably, patients in our cohort generally experienced a positive and sustained response to levodopa over time.
The findings from our study underscore the significant role of mitochondrial nuclear genes in the development of parkinsonism and highlight the need for targeted gene screening in cases of parkinsonism with mitochondrial “red flags”. The extrapyramidal features observed in our cohort closely resembled those seen in idiopathic parkinsonism, with patients typically responding well to existing treatment options.”