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 2006
Externally publishedYes

Fingerprint

Mucopolysaccharidosis IV
Spinocerebellar Ataxias
Pedigree
Mucopolysaccharidoses
Inborn Genetic Diseases
Marriage
Mutation

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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.

Spinocerebellar ataxia and morquio syndrome within one family tree. / Saini, Kamal S.; Patnaik, Mrinal M; Parmar, Gurdip; Pant, Pravin N.; Kute, Vivek B.; Nagar, Vidya S.; Deshpande, Alaka K.

In: Journal, Indian Academy of Clinical Medicine, Vol. 7, No. 4, 10.2006, p. 368-371.

Research output: Contribution to journalArticle

Saini, KS, Patnaik, MM, Parmar, G, Pant, PN, Kute, VB, Nagar, VS & Deshpande, AK 2006, 'Spinocerebellar ataxia and morquio syndrome within one family tree', Journal, Indian Academy of Clinical Medicine, vol. 7, no. 4, pp. 368-371.
Saini, Kamal S. ; Patnaik, Mrinal M ; Parmar, Gurdip ; Pant, Pravin N. ; Kute, Vivek B. ; Nagar, Vidya S. ; Deshpande, Alaka K. / Spinocerebellar ataxia and morquio syndrome within one family tree. In: Journal, Indian Academy of Clinical Medicine. 2006 ; Vol. 7, No. 4. pp. 368-371.
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