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Войти в исследования Neurology. Genetics · 2024
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.
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Ghayal Nikhil B, Roemer Shanu F, Tipton Philip W, Jiang Peizhou, Selner Elizabeth M, Peck Dawn S, Murakami Aya, Oglesbee Devin, Graff-Radford Neill R, Dickson Dennis W
Аннотация
OBJECTIVES: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.
METHODS: Data and imaging were obtained from the patient's medical records. The patient was examined neuropathologically, and next-generation sequencing was performed.
RESULTS: Clinical radiologic scans revealed bilateral cortical atrophy, ventriculomegaly, a thin corpus callosum, and cerebellar vermian atrophy. Pathologic examination was remarkable for NCL. Postmortem genetic testing revealed a homozygous cathepsin F (CTSF) indel variant. A review of 20 reported CLN13 patients revealed novel clinical subtypes, including KSB type I (KSB-I), KSB type II (KSB-II), and Kufs syndrome C (KSC).
DISCUSSION: CLN13 was clinically heterogeneous. Most patients with CLN13 (14/20) did not present with classic KSB (KSB-I). Instead, 6 patients presented with KSB-II, 4 patients presented with KSC (including the present patient), and 3 patients presented with dementia. Our results expand the CLN13 clinical spectrum and emphasize the importance of screening CTSF variants in clinical dementia and movement disorder cohorts.
METHODS: Data and imaging were obtained from the patient's medical records. The patient was examined neuropathologically, and next-generation sequencing was performed.
RESULTS: Clinical radiologic scans revealed bilateral cortical atrophy, ventriculomegaly, a thin corpus callosum, and cerebellar vermian atrophy. Pathologic examination was remarkable for NCL. Postmortem genetic testing revealed a homozygous cathepsin F (CTSF) indel variant. A review of 20 reported CLN13 patients revealed novel clinical subtypes, including KSB type I (KSB-I), KSB type II (KSB-II), and Kufs syndrome C (KSC).
DISCUSSION: CLN13 was clinically heterogeneous. Most patients with CLN13 (14/20) did not present with classic KSB (KSB-I). Instead, 6 patients presented with KSB-II, 4 patients presented with KSC (including the present patient), and 3 patients presented with dementia. Our results expand the CLN13 clinical spectrum and emphasize the importance of screening CTSF variants in clinical dementia and movement disorder cohorts.