Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey


Karaer H., Kaplan Y., Kurt S., Gundogdu A., Erdogan B., Basak N. A.

AMYOTROPHIC LATERAL SCLEROSIS, vol.11, pp.148-153, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11
  • Publication Date: 2010
  • Doi Number: 10.3109/17482960802445086
  • Journal Name: AMYOTROPHIC LATERAL SCLEROSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.148-153
  • Inonu University Affiliated: Yes

Abstract

The family consisted of 128 individuals over five generations, with two consanguineous parents, one slightly affected female, and 12 affected males with SBMA. We studied the five surviving male patients and one surviving female carrier. The age at disease onset, phenotypic features, and disease severity varied among the family members. DNA analysis was performed on five individuals, belonging to five generations of the family. Four affected males and a slightly affected female carrier were shown to carry an expanded CAG repeat in the androgen receptor gene. This family report is consistent with previous studies suggesting that SBMA may be present with a wide clinical spectrum in affected family members. Further descriptions of SBMA affected families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease.