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GHC GENETICS SK, s. r. o.
Ilkovičova 8, 841 04 Bratislava

IČO: 35 921 528, DIČ: 2021964604
IČ DPH: SK2021964604.

Administratíva: +421 2 4319 1912

Odborné konzultácie: +421 2 4524 1268

Email: dnatest@dnatest.sk, info@ghc.sk

IBAN: SK11 1100 0000 0026 2170 1853, SWIFT: TATRSKBX

Spinocerebrálna ataxia - SCA

Rozsah vyšetrenia: ATXN1, ATXN2 - CAG repetície/expanzie

Analyzačná metóda: Masívne paralelné sekvenovanie, priame sekvenovanie, MLPA analýza

Zdieľať:

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs, https://omim.org/entry/164400) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).

Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (183090), and SCA3, or Machado-Joseph disease (109150), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (607640), caused by a CAG repeat expansion in the ATXN7 gene (607640) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (600224), SCA31 (117210), SCA6 (183086), and SCA11 (600432) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.

Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

K vyšetreniu je potrebná indikácia klinického genetika a nutné absolvovať genetickú konzultáciu.

Zoznam ambulancií klinickej genetiky nájdete na http://sslg.sk/index.php/sslg/pracoviska.

Periférna krv

- 1-2 ml žilovej krvi do skúmaviek s EDTA (napr. Vacutainer – ružový vrchnák), používané aj na krvný obraz

- po odbere krátkodobo (2-5 dní) skladovať pri 4-8°C, príp. pri izbovej teplote – max. 24 hod.

- štandardne nemraziť, v prípade zmrazenia je nutné transportovať zmrazené, opakované zmrazovanie degraduje DNA

- transport – krátkodobý pri bežnej teplote, aj poštou (1-2 dni), dlhodobý pri 4-8°C

 

Bukálny ster:

1. Pred odberom približne hodinu nič nejedzte ani nepite. Optimálne podmienky na odber sú ráno pred umytím zubov.

2. Otvorte sáčok s odberovou súpravou a opatrne vyberte vrchnák s tyčinkou z tuby.

3. Opakovanými krúživými pohybmi hore-dolu (asi 10x) stierajte v ústnej dutine povrch vnútornej strany líca tak, aby bol celý povrch tampónu pokrytý.

4. Následne tyčinku opatrne vložte do príslušnej tuby a v horizontálnej polohe nechajte sušiť aspoň jednu hodinu.

5. Tubu označte menom vzorky.