Spinocerebellar ataxia and morquio syndrome within one family tree

Kamal S. Saini, Mrinal M. Patnaik, Gurdip Parmar, Pravin N. Pant, Vivek B. Kute, Vidya S. Nagar, Alaka K. Deshpande

Research output: Contribution to journalArticle

Abstract

Consanguineous marriages may lead to the propagation of a number of autosomal recessive genetic diseases. Spontaneous mutations causing diseases with autosomal dominant transmission may also, of course, occur in such families. Here we describe a rare co-occurrence of type 4 autosomal recessive mucopolysaccharidosis (Morquio syndrome) alongwith the autosomal dominant type 2 spinocerebellar ataxia within the same family.

Original languageEnglish (US)
Pages (from-to)368-371
Number of pages4
JournalJournal, Indian Academy of Clinical Medicine
Volume7
Issue number4
StatePublished - Oct 1 2006

Keywords

  • Autosomal dominant (AD)
  • Autosomal recessive (AR)
  • Genetic anticipation
  • Morquio syndrome
  • Mucopolysaccharidosis
  • Spinocerebellar ataxia (SCA)
  • Trinucleotide repeat expansions

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Saini, K. S., Patnaik, M. M., Parmar, G., Pant, P. N., Kute, V. B., Nagar, V. S., & Deshpande, A. K. (2006). Spinocerebellar ataxia and morquio syndrome within one family tree. Journal, Indian Academy of Clinical Medicine, 7(4), 368-371.