NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.
In: Annals of Neurology, Jg. 88 (2020-09-01), Heft 3, S. 614-618
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Zugriff:
We screened 662 subjects comprising 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from well-characterized ET pedigrees) and 200 controls and identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic ET patients. Two patients were followed up for >1 decade; one with 90 repeats remained an ET phenotype that did not evolve after 40 years, whereas another patient with 107 repeats developed motor symptoms and cognitive impairment after 8 to 10 years. Neuroimaging in this patient revealed severe leukoencephalopathy; diffusion-weighted imaging hyperintensity in the corticomedullary junction and skin biopsy revealed intranuclear inclusions suggestive of intranuclear inclusion body disease (NIID). No GGC repeats of >60 units were detected in familial ET cases and controls, although 4 ET patients carried 47 to 53 "intermediate" repeats. NOTCH2NLC GGC repeat expansions can be associated with sporadic ET. Carriers presenting with a pure ET phenotype may or may not convert to NIID up to 4 decades after initial tremor onset. ANN NEUROL 2020;88:614-618. [ABSTRACT FROM AUTHOR]
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NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.
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Autor/in / Beteiligte Person: | Ng, Adeline S. L. ; Lim, Weng Khong ; Xu, Zheyu ; Ong, Helen L. ; Tan, Yi Jayne ; Sim, Wei Ying ; Ng, Ebonne Y. L. ; Teo, Jing Xian ; Foo, Jia Nee ; Lim, Tchoyoson C. C. ; Yu, Wai‐Yung ; Chan, Ling‐Ling ; Lee, Hwei‐Yee ; Chen, Zhiyong ; Lim, Ee‐Wei ; Ting, Simon K. S. ; Prakash, Kumar M. ; Tan, Louis C. S. ; Yi, Zhao ; Tan, Eng‐King |
Zeitschrift: | Annals of Neurology, Jg. 88 (2020-09-01), Heft 3, S. 614-618 |
Veröffentlichung: | 2020 |
Medientyp: | academicJournal |
ISSN: | 0364-5134 (print) |
DOI: | 10.1002/ana.25803 |
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