Phenotypic variability in three families with valosin-containing protein mutation.
Phenotypic variability in three families with valosin-containing protein mutation.
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DOI：
10.1111/j.1468-1331.2012.03831.x
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发表时间：
2013-02
影响因子：
5.1
通讯作者：
Ghetti B
中科院分区：
文献类型：
--
作者：
Spina S;Van Laar AD;Murrell JR;Hamilton RL;Kofler JK;Epperson F;Farlow MR;Lopez OL;Quinlan J;DeKosky ST;Ghetti B
在三个家族中描述了与含缬氨肽蛋白（VCP）突变相关的IBMPFD [包涵体肌病伴佩吉特骨病和额颞叶痴呆（FTD）]表型。根据额颞叶变性伴TDP-43阳性IV型内含物的病理诊断来确定先证者。进行VCP测序。对受影响家庭成员的临床资料进行了审查。俄亥俄州家族：4例受试者出现肌无力和消瘦。(One受试者具有神经病和肌病发现，另一个受试者仅显示肌病的证据。其余2例受试者无力的病因无法确定。）2例个体还表现出帕金森综合征（其中1例伴有FTD）。先证者的大脑显示FTLD-TDP IV型和Braak 5级帕金森病（PD）。发现一个VCP R191Q突变。在两名突变携带者中观察到帕金森症，而另一名受试者表现为原发性进行性失语症（PPA）。印第安纳州家系：3例患者发生IBMPFD。在2名个体中诊断出FTD，在第3名也显示肌无力的个体中疑似FTD。我们发现了一个VCP R159C突变，我们鉴定了三个与VCP突变相关的IBMPFD家系。临床和病理PD记录的第一次在两个家庭的成员。发现了一个新的T262A突变。一个人有PPA：IBMPFD的一种罕见表现。
The phenotype of IBMPFD [inclusion body myopathy with Paget’s disease of the bone and frontotemporal dementia (FTD)] associated with valosin-containing protein(VCP) mutation is described in three families. Probands were identified based on a pathological diagnosis of frontotemporal lobar degeneration with TDP-43-positive inclusions type IV. VCP sequencing was carried out. Clinical data on affected family members were reviewed. Ohio family: four subjects presented muscle weakness and wasting. (One subject had both neuropathic and myopathic findings and another subject showed only evidence of myopathy. The etiology of weakness could not be ascertained in the remaining two subjects.) Two individuals also showed Parkinsonism (with associated FTD in one of the two). The proband’s brain displayed FTLD-TDP type IV and Braak stage five Parkinson’s disease (PD). A VCP R191Q mutation was found. Pennsylvania family: 11 subjects developed IBMPFD. Parkinsonism was noted in two mutation carriers, whilst another subject presented with primary progressive aphasia (PPA). A novel VCP T262A mutation was found. Indiana family: three subjects developed IBMPFD. FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness. A VCP R159C mutation was found. We identified three families with IBMPFD associated with VCP mutations. Clinical and pathological PD was documented for the first time in members of two families. A novel T262A mutation was found. One individual had PPA: an uncommon presentation of IBMPFD.
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影响因子：
11
作者：
HUGHES, AJ;DANIEL, SE;LEES, AJ
通讯作者：
LEES, AJ
影响因子：
2.8
作者：
Stojkovic, Tanya;Hammouda, El Hadi;Eymard, Bruno
通讯作者：
Eymard, Bruno
影响因子：
4.2
作者：
Bersano, Anna;Del Bo, Roberto;Corti, Stefania
通讯作者：
Corti, Stefania
影响因子：
6
作者：
Cairns, Nigel J.;Neumann, Manuela;Mackenzie, Ian R. A.
通讯作者：
Mackenzie, Ian R. A.
DOI：
10.1097/01.jnen.0000205147.39210.c7
发表时间：
2006-03-01
影响因子：
3.2
作者：
Pirici, Daniel;Vandenberghe, Rik;Kumar-Singh, Samir
通讯作者：
Kumar-Singh, Samir