SPG11: clinical and genetic features of seven Czech patients and literature review

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F22%3A00076342" target="_blank" >RIV/00159816:_____/22:00076342 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00098892:_____/22:10157144 RIV/00064165:_____/22:10441532 RIV/00064203:_____/22:10441532 RIV/00216208:11110/22:10441532 RIV/00216208:11130/22:10441532

Výsledek na webu

<a href="https://www.tandfonline.com/doi/abs/10.1080/01616412.2021.1975224?journalCode=yner20" target="_blank" >https://www.tandfonline.com/doi/abs/10.1080/01616412.2021.1975224?journalCode=yner20</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1080/01616412.2021.1975224" target="_blank" >10.1080/01616412.2021.1975224</a>

Jazyk výsledku

angličtina

Název v původním jazyce

SPG11: clinical and genetic features of seven Czech patients and literature review

Popis výsledku v původním jazyce

SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients from the Czech Republic with biallelic pathogenic variants in the SPG11. The typical HSP neurological findings are present in all the described patients in that the signs of a complicated phenotype develop slowly. The speed of disease progression, and the severity of gait impairment, was fast in all patients but the phenotype varied from patient to patient. Thin corpus callosum was not observed in two patients. Two Czech SPG11 patients had unusual late onset of disease and both were compound heterozygotes for the c.5381T&gt;C variant. Therefore, we looked for a potential ralationship between the type of variant in the SPG11 gene and the age of disease onset. By reviewing all described SPG11 patients carrying at least one missense pathogenic variant in the SPG11 gene we did not found any relationship between the age of onset and the type of variant. Together twelve pathogenic variants, including gross deletions, were found in the SPG11 gene the Czech SPG11 patients, the c.3454-2A&gt;G variant is novel.

Název v anglickém jazyce

SPG11: clinical and genetic features of seven Czech patients and literature review

Popis výsledku anglicky

SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients from the Czech Republic with biallelic pathogenic variants in the SPG11. The typical HSP neurological findings are present in all the described patients in that the signs of a complicated phenotype develop slowly. The speed of disease progression, and the severity of gait impairment, was fast in all patients but the phenotype varied from patient to patient. Thin corpus callosum was not observed in two patients. Two Czech SPG11 patients had unusual late onset of disease and both were compound heterozygotes for the c.5381T&gt;C variant. Therefore, we looked for a potential ralationship between the type of variant in the SPG11 gene and the age of disease onset. By reviewing all described SPG11 patients carrying at least one missense pathogenic variant in the SPG11 gene we did not found any relationship between the age of onset and the type of variant. Together twelve pathogenic variants, including gross deletions, were found in the SPG11 gene the Czech SPG11 patients, the c.3454-2A&gt;G variant is novel.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30210 - Clinical neurology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

NEUROLOGICAL RESEARCH

ISSN

0161-6412

e-ISSN

1743-1328

Svazek periodika

44

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

11

Strana od-do

379-389

Kód UT WoS článku

000765602100001

EID výsledku v databázi Scopus

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