A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
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DOI：
10.1016/j.jns.2014.03.060
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发表时间：
2014-07-15
影响因子：
4.4
通讯作者：
Takao, Masaki
中科院分区：
文献类型：
--
作者：
Nishida, Katsuya;Garringer, Holly J.;Futamura, Naonobu;Funakawa, Itaru;Jinnai, Kenji;Vidal, Ruben;Takao, Masaki
Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. Neuropathologically, the disease is characterized by abnormal iron and ferritin deposition in the central nervous system. We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal tract signs, and psychiatric symptoms. In the absence of classic clinical symptoms, the initial diagnosis of the disease was based on magnetic resonance imaging studies. Biochemical studies on the proband showed normal serum ferritin levels, but remarkably low cerebrospinal fluid (CSF) ferritin levels. A novel FTL mutation was identified in the proband. Our findings expand the genetic and clinical diversity of neuroferritinopathy and suggest CSF ferritin levels as a novel potential biochemical marker for the diagnosis of neuroferritinopathy.
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影响因子：
14.5
作者：
Chinnery, Patrick F.;Crompton, Douglas E.;Burn, John
通讯作者：
Burn, John
影响因子：
4.4
作者：
Mizuno, S;Mihara, T;Horiguchi, J
通讯作者：
Horiguchi, J
影响因子：
4.8
作者：
Muhoberac BB;Vidal R
通讯作者：
Vidal R
DOI：
10.1093/jnen/63.4.363
发表时间：
2004-04-01
影响因子：
3.2
作者：
Vidal, R;Ghetti, B;Delisle, MB
通讯作者：
Delisle, MB
影响因子：
8.6
作者：
Mir, P;Edwards, MJ;Quinn, NP
通讯作者：
Quinn, NP