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Abstract Details

Cancer Frequency in Spinocerebellar Ataxia Type 10 (SCA10) Patients
Movement Disorders
P8 - Poster Session 8 (8:00 AM-9:00 AM)
3-004
This study aims to verify if SCA10 patients are more likely to develop cancer than the healthy population.
Spinocerebellar ataxia type 10 (SCA10) is caused by an expanded ATTCT pentanucleotide repeat of the ATXN10 gene. This expansion binds to the hnRNP K protein and inactivates it, causing massive translocation of PKCδ to mitochondria and activation of caspase 3, leading to apoptosis. When this protein has reduced expression, there is an increase in cell proliferation in colony formation assays, and in the bone marrow of hnRNP K haploinsufficients mice, due to deficiency of the tumor suppressor pathway.
Semistructured interviews were applied to 43 patients from 20 SCA10 families and 40 healthy controls, seeking to know the history of cancer, age, schooling and life habits. For the patients were also collected: history of cancer and deaths in the family and onset of SCA10. In order to evaluate cancer as cause of death, eight deaths were identified among SCA10 patients (2004-2018) from the archive with patient data.
There was no significant difference between the incidence of cancer in patients (4.6%) and controls (5%). Among the deaths, four cases were caused by cancer (50%). Patients who died due to cancer had earlier onset of SCA10 (28 vs. 46.5, p = 0.02857) and tended to die younger (49 vs. 69.3, p = 0.05714). 

The frequency of cancer as a cause of death was high, but there was no difference in the incidence of cancer throughout the life of SCA10 patients.
Authors/Disclosures

PRESENTER 		No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
Carlos Henrique F. Camargo, MD, PhD, MSc, FÂ鶹´«Ã½Ó³»­ (Inovare Serviços de Saude Ltda.) Dr. Camargo has nothing to disclose.
Helio Afonso G. Teive, MD, PhD, FÂ鶹´«Ã½Ó³»­ Dr. Teive has nothing to disclose.