Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient

被引：0
|
作者：
Teive, H. A. G.
Boguszewski, C. L.
Raskin, S.
Buck, C.
Seminara, S. B.
机构：
来源：
MOVEMENT DISORDERS | 2016年 / 31卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
1047
引用
收藏
页码：S337 / S337
页数：1
相关论文
共 50 条
  • [1] Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
    Liampas, Andreas
    Nicolaou, Paschalis
    Votsi, Christina
    Georghiou, Anthi
    Christodoulou, Kyproula
    Tanteles, George A.
    Pantzaris, Marios
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
  • [2] Biallelic mutations in PNPLA6 gene in a patient with late-onset ataxia and hypogonadotropic hypogonadism
    Africa, L. M.
    Di Donato, I.
    Mignarri, A.
    Tessa, A.
    Santorelli, F. M.
    Dotti, M. T.
    EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 168 - 168
  • [3] Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor
    Canbek, Sezin
    Senol, Mehmet Guney
    JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2024, 15 (04) : 594 - 599
  • [4] Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
    Hélio Afonso Ghizoni Teive
    Carlos Henrique F. Camargo
    Mario Teruo Sato
    Naoye Shiokawa
    Cesar L. Boguszewski
    Salmo Raskin
    Cassandra Buck
    Stephanie B. Seminara
    Renato Puppi Munhoz
    The Cerebellum, 2018, 17 : 380 - 385
  • [5] Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
    Ghizoni Teive, Helio Afonso
    Camargo, Carlos Henrique F.
    Sato, Mario Teruo
    Shiokawa, Naoye
    Boguszewski, Cesar L.
    Raskin, Salmo
    Buck, Cassandra
    Seminara, Stephanie B.
    Munhoz, Renato Puppi
    CEREBELLUM, 2018, 17 (03): : 380 - 385
  • [6] Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
    Sarah Wiethoff
    Conceição Bettencourt
    Reema Paudel
    Prochi Madon
    Yo-Tsen Liu
    Joshua Hersheson
    Noshir Wadia
    Joy Desai
    Henry Houlden
    The Cerebellum, 2017, 16 : 262 - 267
  • [7] Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
    Wiethoff, Sarah
    Bettencourt, Conceicao
    Paudel, Reema
    Madon, Prochi
    Liu, Yo-Tsen
    Hersheson, Joshua
    Wadia, Noshir
    Desai, Joy
    Houlden, Henry
    CEREBELLUM, 2017, 16 (01): : 262 - 267
  • [8] PNPLA6 related cerebellar ataxia: a family report with intra-familial phenotypic variability
    Varga, Noemi Agnes
    Trombitas, Barbara
    Laszlo, Reka
    Grosz, Zoltan
    Molnar, Maria Judit
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 206 - 207
  • [9] Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
    Dogan, Mustafa
    Eroz, Recep
    Ozturk, Emrah
    OPHTHALMIC GENETICS, 2021, 42 (03) : 276 - 282
  • [10] Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: A case report
    Maggio, Maria Cristina
    Venezia, Renato
    Di Blasio, Anna Maria
    Corsello, Giovanni
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 568 - 568
12345