Parkinsonism-dystonia-2: Case-series study from Saudi Arabia

被引：0

作者：

Almuqbil, Mohammed A. ^{[1
,2
,3
]}

Tabassum, Sadia ^{[4
]}

Muthaffar, Osama Y. ^{[5
]}

Ghamdi, Fouad ^{[6
]}

Al Masseri, Zainab ^{[7
]}

Alsaman, Abdulaziz ^{[8
]}

Alkhater, Reem A. ^{[9
,10
,11
,12
]}

机构：

[1] King Saud bin Abdulaziz Univ Hlth Sci KSAU HS, Coll Med, Riyadh, Saudi Arabia

[2] King Abdullah Specialist Childrens Hosp KASCH, Div Pediat Neurol, Natl Guard Hlth Affairs NGHA, Riyadh, Saudi Arabia

[3] Minist Natl Guard, King Abdullah Int Med Res Ctr KAIMRC, Riyadh 11481, Saudi Arabia

[4] King Fahad Med City KFMC, Dept Pediat, Riyadh, Saudi Arabia

[5] King Abdulaziz Univ, Fac Med, Dept Pediat, Jeddah, Saudi Arabia

[6] King Fahad Specialist Hosp, Neurosci Ctr, Dept Pediat Neurol, Dammam, Saudi Arabia

[7] Qatif Cent Hosp, Dept Pediat, Med Genet Unit, Eastern Hlth Cluster,Minist Hlth, Qatif, Saudi Arabia

[8] King Fahad Med City KFMC, Dept Pediat Neurol, Natl Neurosci Inst, Riyadh, Saudi Arabia

[9] Johns Hopkins Aramco Healthcare Jhah, Women & Child Inst, Dhahran, Saudi Arabia

[10] Johns Hopkins Sch Med, Baltimore, MD USA

[11] King Abdullah Univ Sci & Technol KAUST, Thuwal, Saudi Arabia

[12] John Hokins Aramco Healthcare Jhah, Women & Child Inst, POB 6850, Dhahran 31311, Saudi Arabia

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2024年 / 11卷 / 04期

关键词：

VESICULAR TRANSPORT DISEASE;

D O I：

10.1002/acn3.52020

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes.

引用

页码：1063 / 1066

页数：4

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