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The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.

Clinical genetics - 1 May 2026

Koutsis Georgios, Chelban Viorica, Kartanou Chrisoula, Kontogeorgiou Zoi, Koniari Chrysoula, Ragazos Nikolaos, Voudommatis Charalampos, Zhelcheska Kristina, Lynch David S, Maroofian Reza, Barkhordari Ehsan, Mohammad Rahema, Zaganas Ioannis, Drakos Minas, Xiromerisiou Georgia, Dardiotis Efthymios, Stefanis Leonidas, Panas Marios, Houlden Henry, Karadima Georgia

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a neurogenetic disorder characterized by progressive, length-dependent degeneration of the upper motor neurons. We investigated 112 Greek HSP index cases collected over more than 25 years from all regions of the country, using a combination of next generation sequencing and multiplex ligation-dependent probe amplification. In total, we identified a causative variant in 68...

Topics

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ATPases Associated with Diverse Cellular Activities
Greece
High-Throughput Nucleotide Sequencing
Metalloendopeptidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

Steroid Hydroxylases

Source

Open in PubMed Open full text

Identifiers

PMID: 41277402
DOI: 10.1111/cge.70113
PMCID: PMC13066777

Genes

CYP7B1
SPAST
SPG7
ABCD1
AP5Z1
ARG1
ATL1
BSCL2
CYP27A1
GFAP
KIF5A
PLP1
POLR3A
PSEN1
REEP1
SOD1
SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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