BSCL2 N88S MUTATION IN A PORTUGUESE PATIENT WITH THE SILVER SYNDROME

被引:4
|
作者
Monteiro, Ana [1 ]
Real, Raquel [1 ]
Nadais, Goreti [1 ]
Silveira, Fernando [1 ]
Leao, Miguel [2 ]
机构
[1] Ctr Hosp Sao Joao, Dept Neurol, P-4200319 Oporto, Portugal
[2] Ctr Hosp Sao Joao, Dept Med Genet, P-4200319 Oporto, Portugal
关键词
HEREDITARY MOTOR NEUROPATHY; PHENOTYPE;
D O I
10.1002/mus.24455
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:456 / 458
页数:3
相关论文
共 50 条
  • [1] The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation
    Minami, Kazushi
    Takahashi, Shinichi
    Nihei, Yoshihiro
    Oki, Koichi
    Suzuki, Shigeaki
    Ito, Daisuke
    Takashima, Hiroshi
    Suzuki, Norihiro
    INTERNAL MEDICINE, 2018, 57 (04) : 613 - 615
  • [2] Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
    Chen, Bin
    Zheng, Riliang
    Luan, Xinghua
    Zhang, Wei
    Wang, Zhaoxia
    Yuan, Yun
    NEUROPATHOLOGY, 2009, 29 (05) : 543 - 547
  • [3] N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome
    Rakocevic-Stojanovic, V.
    Milic-Rasic, V.
    Peric, S.
    Baets, J.
    Timmerman, V.
    Dierick, I.
    Pavlovic, S.
    De Jonghe, P.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 296 (1-2) : 107 - 109
  • [4] BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature
    Cen, Zhidong
    Lu, Xingjiao
    Wang, Zhenzhen
    Ouyang, Zhiyuan
    Xie, Fei
    Luo, Wei
    JOURNAL OF CLINICAL NEUROSCIENCE, 2015, 22 (02) : 429 - 430
  • [5] BSCL2 missense mutation in an Italian family with silver syndrome (SPG17) and prevalent motor neuropathy
    Cafforio, G
    Mancuso, M
    Calabrese, R
    Martinuzzi, A
    Bassi, M
    Crippa, E
    Siciliano, G
    Murri, L
    JOURNAL OF NEUROLOGY, 2005, 252 : 137 - 137
  • [6] Heterozygous missense mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy or silver syndrome
    Stojanovic, V. Rakocevic
    Rasic, V. Milic
    Van Broeckhoven, C.
    De Jonghe, P.
    Nelis, E.
    Nikolic, A.
    Tasic, Z.
    Marjanovic, I.
    Lavrnic, D.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 285 : S333 - S333
  • [7] Implications of BSCL2 Mutation in the Pathogenesis of Parkinson's disease (PD)
    Regalado-Mustafa, A. Y.
    Alvarez-Hernandez, C. F.
    Moguel-Cardin, W. F.
    Guerra-Anzaldo, A. L.
    Dominguez-Garcia, A.
    Medrano-Delgado, M. A. G.
    Hernandez-Medrano, A. J.
    Cervantes-Arriaga, A.
    Abundes-Corona, A.
    Guevara-Salinas, A.
    Rodriguez-Violante, M.
    Monroy-Jaramillo, N.
    Adalid-Peralta, L. V.
    MOVEMENT DISORDERS, 2024, 39 : S754 - S754
  • [8] The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
    Gianfranco Cafforio
    Rosanna Calabrese
    Nicola Morelli
    Michelangelo Mancuso
    Selina Piazza
    Andrea Martinuzzi
    Maria Teresa Bassi
    Francesco Crippa
    Gabriele Siciliano
    Neurological Sciences, 2008, 29
  • [9] The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
    Cafforio, Gianfranco
    Calabrese, Rosanna
    Morelli, Nicola
    Mancuso, Michelangelo
    Piazza, Selina
    Martinuzzi, Andrea
    Bassi, Maria Teresa
    Crippa, Francesco
    Siciliano, Gabriele
    NEUROLOGICAL SCIENCES, 2008, 29 (03) : 189 - 191
  • [10] BSCL2 missense mutation in an Italian case with distal motor neuropathy and Silver syndrome (SPG17)
    Siciliano, G
    Cafforio, G
    Mancuso, M
    Calabrese, R
    Martinuzzi, A
    Bassi, MT
    Crippa, F
    Murri, L
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2005, 10 : 87 - 87