A case of familial frontotemporal dementia caused by a progranulin gene mutation

Lauryn Currens; Nigel Harrison; Maria Schmidt; Halima Amjad; Weiyi Mu; Sonja W. Scholz; Jee Bang; Alexander Pantelyat

Clinical Parkinsonism & Related Disorders (Jan 2023)

A case of familial frontotemporal dementia caused by a progranulin gene mutation

Lauryn Currens,
Nigel Harrison,
Maria Schmidt,
Halima Amjad,
Weiyi Mu,
Sonja W. Scholz,
Jee Bang,
Alexander Pantelyat

Affiliations

Lauryn Currens: Department of Neurology, University of Massachusetts Chan Medical School, 55 N Lake Ave, Worcester, MA 01655, USA; Corresponding author at: Department of Neurology, Johns Hopkins University School of Medicine, USA.
Nigel Harrison: Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Maria Schmidt: Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Halima Amjad: Division of Geriatric Medicine and Gerontology, Department of Medicine, Johns Hopkins University School of Medicine, 5200 Eastern Avenue, Baltimore, MD 21224, USA
Weiyi Mu: Department of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Sonja W. Scholz: Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
Jee Bang: Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
Alexander Pantelyat: Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA

Journal volume & issue: Vol. 9
p. 100213

Abstract

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After Alzheimer’s disease, Frontotemporal dementia (FTD) is the most common cause of early-onset dementia. Several genetic mutations have been identified in familial FTD, with mutations in progranulin (GRN) accounting for approximately 20–25% of familial FTD cases and about 10% of total FTD cases. We report the case of a familial FTD patient with atypical parkinsonism who was found to have GRN frontotemporal dementia (GRN-FTD) with a pathogenic splice site mutation (c.709-2A > G) and notable phenotypic heterogeneity among family members.

Published in Clinical Parkinsonism & Related Disorders

ISSN: 2590-1125 (Online)
Publisher: Elsevier
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system
Website: https://www.journals.elsevier.com/clinical-parkinsonism-and-related-disorders

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Abstract

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