Objective: To report a case of a family with a mutation in progranulin gene manifesting as corticobasal syndrome, frontotemporal dementia and parkinson’s disease.

Background: Corticobasal syndrome (CBS) is mostly sporadic, but rare familial and isolated genetic cases have already been identified. When genetically determined, CBS is associated with genes encoding progranulin (GRN) or microtubule associated  tau protein (MAPT).

Method: Review of clinical process of each family members  and clinical evaluation of corticobasal syndrome and parkinson’s disease patient.

Results: Male patient, 62 years old, previously healthy, who reports tremor of the left hand which he noticed about 3 years ago. He stopped using that hand, describing an involuntary movement of levitation. He reported feeling that, shortly afterwards, his left leg was different and was also shaking. In the initial observation in 2020, he was not apraxic, but he had hyperreflexia and rigidity predominantly on the left, postural and bilateral action tremor and a dystonic posture of the left hand. He had a magnetic resonance imaging (MRI) showing atrophy of the parietal and right frontal lobes and was medicated with levodopa 300mg/day, initially with some improvement in the tremor. During the follow-up in a neurology consultation, astereognosis and ideomotor apraxia of the left hand were observed. The patient was asked about family history: he has 15 siblings, one has a mild parkinsonian syndrome and another with frontotemporal dementia (FTD) diagnosed at age 63. The latter underwent a genetic test which revealed a heterozygous mutation in the progranulin gene, GRN NM_002087.2:c.768_769dupCC (p.Gln257Profs*27), whose research in our patient was also positive.

Conclusion: Cases of CBS of genetic cause often have a positive family history. In one review, 32% of familial cases had at least one other relative diagnosed with FTD. The present case is atypical for the absence of any language disorder. We are waiting for a genetic study on the sister and it would also be interesting to analyze the neuropathological findings of the affected family members.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/p-gln257profs27-mutation-in-progranulin-gene-in-a-patient-with-corticobasal-syndrome-the-importance-of-family-history/