RT Journal Article
SR Electronic
T1 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 191
OP 196
DO 10.17712/nsj.2022.3.20220033
VO 27
IS 3
A1 Qianqian Sha
A1 Yu Xia
A1 Xiya Shen
A1 Ailian Du
YR 2022
UL http://nsj.org.sa/content/27/3/191.abstract
AB 15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrospectively described a 50-year-old male patient who manifested with progressive spastic paraplegia of lower limbs and episodic exacerbation. While brain MRI showed white matter hyperintensities, lacunes, cerebral microbleeds, enlarged perivascular spaces, and brain atrophy, mimicking small vessel disease. Next-generation sequencing combining multiplex ligation-dependent probe amplification identified a 253 kb 15q11.2 BP1-BP2 microdeletion, encompassing 4 conserved imprinted genes (NIPA1, NIPA2, CYFIP1 and TUBGCP5). This report will build new connections among spastic paraplegia, small vessel disease and 15q11.2 BP1-BP2 microdeletion.