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First families with spinocerebellar ataxia type 7 in Poland.

Jarosław DulskiRana Hanna Al-ShaikhMercedes PrudencioLeonard PetrucelliAnna SulekKrzysztof BernatowiczJarosław SławekZbigniew K Wszolek
Published in: Neurologia i neurochirurgia polska (2023)
Vision loss due to pigmentary retinal degeneration is the distinguishing feature of SCA7 and often the initial manifestation. Although SCA7 is one of the most common SCAs in Sweden, it has never been reported in neighbouring Poland. Until now, cardiac abnormalities have only been described in infantile-onset SCA7 with large CAG repeats. The observed cardiac involvement in Family 2 may be coincidental, albeit a new possible manifestation of SCA7 cannot be excluded.
Keyphrases
  • left ventricular
  • machine learning
  • early onset
  • heart failure