frontotemporal dementia/asthenia

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[Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].

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Logi sisse

Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) is an autosomal dominant disease caused by mutations in the VCP gene. VCP encodes a well-conserved multifunctional protein, valosin containing protein (VCP), which has important roles in protein quality control

[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].

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Logi sisse

Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin-containing protein (VCP) gene. Varied clinical features caused by VCP mutations have been reported: these clinical phenotypes include distal myopathy, frontotemporal

Characterization of amyotrophic lateral sclerosis and frontotemporal dementia.

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Amyotrophic lateral sclerosis (ALS) produces progressive weakness, muscular wasting, and spasticity leading to death from respiratory failure at a median of 3 years after onset. ALS and frontotemporal dementia (FTD) overlap in both familial and sporadic cases of ALS. When both occur in families, the

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.

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Mutations in p97/VCP cause the autosomal-dominant, inherited syndrome inclusion body myopathy (IBM) associated with Paget's disease of the bone and frontotemporal dementia (IBMPFD) (Watts, G.D., Wymer, J., Kovach, M.J., Mehta, S.G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M.P. and Kimonis, V.E.

A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia.

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Logi sisse

Mutations in the valosin-containing protein (VCP) are known to cause autosomal-dominant inclusion-body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N-terminal region of the VCP gene in a German family. Family members

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been attributed to eight missense mutations in valosin-containing protein (VCP). We report novel VCP mutations N387H and L198W in six individuals from two families who

Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene.

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A middle-aged Japanese man presented with slowly progressive asymmetric weakness of legs and arm but had neither ptosis nor dysphagia. He had a family history of similar condition suggestive of autosomal dominant inheritance. A muscle biopsy showed mixture of neurogenic atrophy and myopathy with

[Language and semantic memory impairment in a patient with motor neuron disease and semantic dementia: a case report].

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We report the rare case of a 59-year-old man with motor neuron disease and semantic dementia (SD-MND); SD-MND was in a very early stage, and its clinical progression, especially with regard to language impairment, and abnormalities on neuroimages were evaluated for 3 years. The patient complained

Frontotemporal Dementia with Motor Neuron Disease in a Patient with Antiphospholipid Syndrome: A Case Report.

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Frontotemporal dementia (FTD) with motor neuron disease (MND) is a syndrome of progressive changes in behavior, language, muscle weakness and atrophy due to loss of function of neurons in the frontal and temporal lobes and in motor neurons. Etiology and pathogenesis of FTD with MND are

[A case of mitochondrial disease with multiple mitochondrial DNA deletions suspected amyotrophic lateral sclerosis-frontotemporal dementia].

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A 76-year-old woman showed a dramatic lowering of her tone of voice in October 2014, followed by muscle weakness of the left arm. The previous attending physician noticed remarkable left dominant frontotemporal lobe atrophy on cranial MRI. Her dysarthria, dysphagia and the muscle weakness of her

Frontotemporal dementia and motor neuron disease: report of 3 cases in Taiwan and literature review.

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OBJECTIVE Case reports and a review of literature of the coexistence of motor neuron disease (MND) and frontotemporal dementia (FTD). METHODS All three patients demonstrated generalized lower motor neuron signs and very few upper motor neuron signs. In the level of patterns of cognitive impairments,

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

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The majority of proximal myotonic myopathy syndromes reported so far have been related to the myotonic dystrophy (DM) type 2 (DM2) mutation, an expanded (CCTG)n repeat in the ZNF9 gene. Here, we describe the phenotype and the histological features in muscle and brain of the first large pedigree with

Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.

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BACKGROUND Inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare late-onset autosomal dominant disorder due to a mutation of the valosin-containing protein (VCP) gene. METHODS We report the case of a patient who developed progressive weakness of the

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy.

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Logi sisse

Pathological phenotypes in inclusion body myopathy (IBM) associated with Paget disease of the bone (PDB), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) (IBMPFD/ALS) include defective autophagosome and endosome maturation that result in vacuolation, weakness and muscle

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.

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Logi sisse

Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) is a rare autosomal dominant disease caused by mutations in the valosin-containing protein (VCP) gene. We report a novel heterozygous VCP gene mutation (R159C) in a 69-year-old Italian

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