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 journalArticlepeer-review


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
Issue number4
StatePublished - Oct 2006


  • 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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