Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
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DOI：
10.1001/jamaneurol.2013.5762
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发表时间：
2014-06
期刊：
影响因子：
29
通讯作者：
Kuo, Sheng-Han
中科院分区：
文献类型：
--
作者：
Goldman, Jill S.;Quinzii, Catarina;Dunning-Broadbent, Jane;Waters, Cheryl;Mitsumoto, Hiroshi;Brannagan, Thomas H., III;Cosentino, Stephanie;Huey, Edward D.;Nagy, Peter;Kuo, Sheng-Han
To report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. A 65 year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed with MSA based on her clinical history and the hot cross bun sign on brain MRI. Her 62-year-old brother had progressive weakness, fasciculations, hyperreflexia, and active denervation on EMG without cerebellar ataxia. He was diagnosed with ALS. Both patients had a >44/2 hexanucleotide expansion in C9orf72. Patients with hexanucleotide repeat expansions in C9orf72 can present with MSA as well as ALS or FTD. We report this family with co-existing MSA and ALS, highlighting the phenotypic variability in neurological presentations with hexanucleotide repeat expansions in C9orf72.
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DOI：
10.1093/brain/aws001
发表时间：
2012-03
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Whitwell JL;Weigand SD;Boeve BF;Senjem ML;Gunter JL;DeJesus-Hernandez M;Rutherford NJ;Baker M;Knopman DS;Wszolek ZK;Parisi JE;Dickson DW;Petersen RC;Rademakers R;Jack CR Jr;Josephs KA
通讯作者：
Josephs KA
DOI：
10.1016/s1474-4422(12)70043-1
发表时间：
2012-04
期刊：
The Lancet. Neurology
影响因子：
--
作者：
Majounie E;Renton AE;Mok K;Dopper EG;Waite A;Rollinson S;Chiò A;Restagno G;Nicolaou N;Simon-Sanchez J;van Swieten JC;Abramzon Y;Johnson JO;Sendtner M;Pamphlett R;Orrell RW;Mead S;Sidle KC;Houlden H;Rohrer JD;Morrison KE;Pall H;Talbot K;Ansorge O;Chromosome 9-ALS/FTD Consortium;French research network on FTLD/FTLD/ALS;ITALSGEN Consortium;Hernandez DG;Arepalli S;Sabatelli M;Mora G;Corbo M;Giannini F;Calvo A;Englund E;Borghero G;Floris GL;Remes AM;Laaksovirta H;McCluskey L;Trojanowski JQ;Van Deerlin VM;Schellenberg GD;Nalls MA;Drory VE;Lu CS;Yeh TH;Ishiura H;Takahashi Y;Tsuji S;Le Ber I;Brice A;Drepper C;Williams N;Kirby J;Shaw P;Hardy J;Tienari PJ;Heutink P;Morris HR;Pickering-Brown S;Traynor BJ
通讯作者：
Traynor BJ
影响因子：
9
作者：
Mahoney, Colin J.;Downey, Laura E.;Warren, Jason D.
通讯作者：
Warren, Jason D.
影响因子：
16.2
作者：
DeJesus-Hernandez M;Mackenzie IR;Boeve BF;Boxer AL;Baker M;Rutherford NJ;Nicholson AM;Finch NA;Flynn H;Adamson J;Kouri N;Wojtas A;Sengdy P;Hsiung GY;Karydas A;Seeley WW;Josephs KA;Coppola G;Geschwind DH;Wszolek ZK;Feldman H;Knopman DS;Petersen RC;Miller BL;Dickson DW;Boylan KB;Graff-Radford NR;Rademakers R
通讯作者：
Rademakers R
影响因子：
9.9
作者：
Gilman, S.;Wenning, G. K.;Vidailhet, M.
通讯作者：
Vidailhet, M.