A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report

被引：4

作者：

He, Zhengqing ^{[1
,2
]}

Pang, Xinyuan ^{[2
,3
]}

Bai, Jiongming ^{[2
,3
]}

Wang, Haoran ^{[2
,3
]}

Feng, Feng ^{[4
]}

Du, Rongrong ^{[2
,3
]}

Huang, Xusheng ^{[1
,2
,3
]}

机构：

[1] Chinese PLA Med Sch, Beijing, Peoples R China

[2] Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Neurol, Beijing, Peoples R China

[3] Nankai Univ, Coll Med, Tianjin, Peoples R China

[4] PLA Rocket Force Characterist Med Ctr, Dept Neurol, Beijing, Peoples R China

来源：

NEUROCASE | 2022年 / 28卷 / 03期

关键词：

Adult-onset; Krabbe disease; GALC gene; spastic paraplegia; GLOBOID-CELL LEUKODYSTROPHY; GALACTOCEREBROSIDASE; CDNA;

D O I：

10.1080/13554794.2022.2083518

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To analyze the clinical, imaging, and genetic characteristics of a patient diagnosed with adult-onset Krabbe disease (KD). Clinical and imaging features of the patient were retrospectively reviewed. The patient, a 40-year-old female, presented adult-onset spastic paraplegia. Brain magnetic resonance imaging (MRI) showed white matter hyperintensities along bilateral optic radiations. Colorimetry of galactocerebrosidase enzyme activity showed low enzyme levels. A heterozygous missense mutation: c.1658G>A (p.G553E) and c.1901T>C (p.L634S) was identified in the GALC gene by whole exome sequencing, and was verified by Sanger sequencing. KD should be considered when patients presented adult-onset spastic paraplegia with classical MRI imaging features. Mutation c.1658G>A (p.G553E) was novel in GALC gene and broaden the mutation spectrum.

引用

页码：314 / 319

页数：6

共 50 条

[21] Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report
M. Zerkaoui
I. Ratbi
B. Castellotti
C. Gellera
J. Lyahyai
Y. Kriouile
A. Sefiani
BMC Pediatrics, 15
[22] Adult-onset Krabbe disease presented with homonymous hemianopsia
Jung, J. W.
Park, J. K.
EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 1160 - 1160
[23] HEMATOPOIETIC STEM-CELL TRANSPLANTATION IN A CASE OF ADULT-ONSET KRABBE DISEASE: FIRST REPORT IN THE LITERATURE
Aul, R. B.
Laule, C.
Sharp, M.
Sirrs, S.
MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 65 - 65
[24] Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report
Wang, Yu
Wang, Su-yue
Li, Kai
Zhu, Yu-long
Xia, Kun
Sun, Dan-dan
Ai, Wen-long
Fu, Xiao-ming
Ye, Qun-rong
Li, Jun
Chen, Huai-zhen
FRONTIERS IN NEUROLOGY, 2022, 13
[25] A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family
Jia, Weimin
Luo, Yalin
Zhang, Tengfei
Yang, Ying
Zhang, Xianqin
NEUROLOGICAL SCIENCES, 2023, 44 (07) : 2605 - 2608
[26] A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family
Weimin Jia
Yalin Luo
Tengfei Zhang
Ying Yang
Xianqin Zhang
Neurological Sciences, 2023, 44 : 2605 - 2608
[27] A novel heteroplasmic mitochondrial complex I gene mutation associated with adult-onset dystonia
Simon, DK
Johns, DR
Friedman, JR
Breakefield, XO
Brin, MF
Charness, ME
Tarsy, D
Tarnopolsky, MA
NEUROLOGY, 2002, 58 (07) : A324 - A324
[28] Adult-Onset ALS with a Novel Deletion Mutation in SETX Gene
Chen, I-Hweii
Bradshaw, Anthony
Farias, Jerrica
Gooch, Clifton
Vu, Tuan
ANNALS OF NEUROLOGY, 2024, 96 : S278 - S278
[29] Ubiquilin 2 gene mutation presenting with adult-onset ataxia and spasticity; report of a novel phenotype case.
Stardeli, T.
Afrantou, T.
Xiromerisiou, G.
Sintila, S. -A.
Kitmeridou, S.
Karatzikou, M.
Dimitriou, M.
Smirni, N.
Grigoriadis, N.
EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 962 - 962
[30] Hematopoietic Stem Cell Transplantation for Adult-Onset Krabbe Disease: First Report in the Literature
Sharp, Madeleine E.
Laule, Corree
Sirrs, Sandra
NEUROLOGY, 2010, 74 (09) : A262 - A263

← 1 2 3 4 5 →