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

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

Hematology

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	368-371
Number of pages	4
Journal	Journal, Indian Academy of Clinical Medicine
Volume	7
Issue number	4
State	Published - Oct 2006

Keywords

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

ASJC Scopus subject areas

General Medicine

Cite this

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title = "Spinocerebellar ataxia and morquio syndrome within one family tree",

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.",

keywords = "Autosomal dominant (AD), Autosomal recessive (AR), Genetic anticipation, Morquio syndrome, Mucopolysaccharidosis, Spinocerebellar ataxia (SCA), Trinucleotide repeat expansions",

author = "Saini, {Kamal S.} and Patnaik, {Mrinal M.} and Gurdip Parmar and Pant, {Pravin N.} and Kute, {Vivek B.} and Nagar, {Vidya S.} and Deshpande, {Alaka K.}",

year = "2006",

month = oct,

language = "English (US)",

volume = "7",

pages = "368--371",

journal = "Journal, Indian Academy of Clinical Medicine",

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TY - JOUR

T1 - Spinocerebellar ataxia and morquio syndrome within one family tree

AU - Saini, Kamal S.

AU - Patnaik, Mrinal M.

AU - Parmar, Gurdip

AU - Pant, Pravin N.

AU - Kute, Vivek B.

AU - Nagar, Vidya S.

AU - Deshpande, Alaka K.

PY - 2006/10

Y1 - 2006/10

N2 - 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.

AB - 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.

KW - Autosomal dominant (AD)

KW - Autosomal recessive (AR)

KW - Genetic anticipation

KW - Morquio syndrome

KW - Mucopolysaccharidosis

KW - Spinocerebellar ataxia (SCA)

KW - Trinucleotide repeat expansions

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M3 - Article

AN - SCOPUS:33845370284

SN - 0972-3560

VL - 7

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JO - Journal, Indian Academy of Clinical Medicine

JF - Journal, Indian Academy of Clinical Medicine

IS - 4

ER -

Spinocerebellar ataxia and morquio syndrome within one family tree

Abstract

Keywords

ASJC Scopus subject areas

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