Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings

Kishore R. Kumar; Merrilee Needham; Kym Mina; Mark Davis; Janice Brewer; Christopher Staples; Karl Ng; Carolyn M. Sue; Frank L. Mastaglia

doi:10.1016/j.nmd.2010.03.002

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings

Kishore R. Kumar^*, Merrilee Needham, Kym Mina, Mark Davis, Janice Brewer, Christopher Staples, Karl Ng, Carolyn M. Sue, Frank L. Mastaglia

^*Corresponding author for this work

52 Citations (Scopus)

Abstract

We report the first Australian families with inclusion-body myopathy, Paget's disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases.

Original language	English
Journal	Neuromuscular Disorders
Volume	20
Issue number	5
Pages (from-to)	330-334
Number of pages	5
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2010.03.002
Publication status	Published - 01.05.2010
Externally published	Yes

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title = "Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings",

abstract = "We report the first Australian families with inclusion-body myopathy, Paget's disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases.",

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AU - Kumar, Kishore R.

AU - Needham, Merrilee

AU - Mina, Kym

AU - Davis, Mark

AU - Brewer, Janice

AU - Staples, Christopher

AU - Ng, Karl

AU - Sue, Carolyn M.

AU - Mastaglia, Frank L.

PY - 2010/5/1

Y1 - 2010/5/1

N2 - We report the first Australian families with inclusion-body myopathy, Paget's disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases.

AB - We report the first Australian families with inclusion-body myopathy, Paget's disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases.

UR - https://www.scopus.com/pages/publications/77952009753

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DO - 10.1016/j.nmd.2010.03.002

M3 - Journal articles

C2 - 20335036

AN - SCOPUS:77952009753

SN - 0960-8966

VL - 20

SP - 330

EP - 334

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 5

ER -

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings

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