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Background: Less than a hundred cases of mitochondrial membrane protein-associated neurodegeneration (MPAN) have been reported thus far in literature. We present a case of a young patient who presented with atypical parkinsonian features, including a severe high amplitude tremor in proximal and distal extremities, which led to an initial diagnosis of functional neurological disorder. He was later found to have a C19orf12 mutation associated with MPAN, a subtype of neurodegeneration with brain iron accumulation (NBIA). Many reported MPAN cases presented with similar phenotypes including dystonia, optic atrophy, dysarthria, rapidly progressive parkinsonism, neuropsychiatric abnormalities, and cognitive decline – though in our case, the severity of his parkinsonian symptoms is distinctive.

A 29-year-old male with a history of depression, anxiety, premature birth, and intellectual disability presented for evaluation of a progressively worsening tremor for years. The tremor first started in his left leg then spread to his right leg and bilateral hands. He also had falls and was reliant on a rollator. On initial exam, he had bilateral upper and lower extremity tremors at varied frequencies and amplitudes with a distractible quality, diaphoresis, spasticity with left foot dystonic posturing, and a glabellar reflex. Several medications were tried, including propranolol, primidone, gabapentin, topiramate, carbidopa/levodopa with no symptomatic improvement. The workup included an MRI brain and 48-hr ambulatory EEG, which were unremarkable, and he was consequently diagnosed with functional neurological disorder. Repeat exam by a movement disorder specialist identified masked facies, rigidity in extremities, grade 3-4 resting tremor, and shuffling gait, which prompted a diagnosis of parkinsonism. He continued to have limited response to carbidopa/levodopa. Given his age, genetic testing was obtained, which demonstrated a heterozygous mutation in the C19orf12 gene associated with MPAN.

Many known MPAN cases, regardless of their inheritance pattern, presented with similar phenotypes including parkinsonism as seen in our case. Due to his young age and diffuse tremors with high amplitudes and frequencies, he was misdiagnosed with functional neurological disorder. Our case spotlights a very rare disease and the challenges of diagnosing it.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-of-mitochondrial-membraine-protein-associated-neurodegeneration-with-progressive-parkinsonism-in-a-young-male/