Abstract
Neuronal intranuclear inclusion disease (NIID, OMIM#:603472) is a neurodegenerative disease characterized by a variety of neurological symptoms, including cognitive impairment, ataxia, and neuropathy. Histopathologically, NIID is characterized by ubiquitin-positive eosinophilic hyaline intranuclear inclusions found in neurons and glial cells, in addition to other cell types, such as skin fibroblasts. GGC triplet repeat expansions in the 5′ exons of NOTCH2NLC cause NIID in both familial and sporadic cases. In this chapter, we describe two genetic diagnosis methods that we originally developed to identify the disease-causing repeat expansions in NIID patients: repeat-primed PCR and long-read sequencing. Repeat-primed PCR enables the testing of a large number of patients and is more cost-effective and suitable for the rapid screening performed in clinical settings. The long-read sequencing approach can identify these repeat expansions through focal and genome-wide analyses and characterize their precise repeat structures.
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Mitsuhashi, S., Fujita, A., Matsumoto, N. (2022). Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease. In: Proukakis, C. (eds) Genomic Structural Variants in Nervous System Disorders. Neuromethods, vol 182. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2357-2_7
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DOI: https://doi.org/10.1007/978-1-0716-2357-2_7
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