TY - JOUR
T1 - Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings
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 - http://www.scopus.com/inward/record.url?scp=77952009753&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2010.03.002
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 -