<i>SPG11</i> mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Faber, Ingrid; Martinez, Alberto Rolim Muro; de Rezende, Thiago Junqueira Ribeiro; Martins, Carlos Roberto; Martins, Melina Pazian; Lourenço, Charles Marques; Marques, Wilson; Montecchiani, Celeste; Orlacchio, Antonio; Pedroso, Jose Luiz; Barsottini, Orlando Graziani Povoas; Lopes-Cendes, Íscia; França, Marcondes Cavalcante

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Faber, Ingrid; Martinez, Alberto Rolim Muro; de Rezende, Thiago Junqueira Ribeiro; Martins, Carlos Roberto; Martins, Melina Pazian; Lourenço, Charles Marques; Marques, Wilson; Montecchiani, Celeste; Orlacchio, Antonio; Pedroso, Jose Luiz; Barsottini, Orlando Graziani Povoas; Lopes-Cendes, Íscia; França, Marcondes Cavalcante.

Afiliación

Faber I; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil.
Martinez ARM; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil.
de Rezende TJR; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil.
Martins CR; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil.
Martins MP; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil.
Lourenço CM; Department of Neurology, University of São Paulo (USP-RP), Ribeirão Preto, Brazil.
Marques W; Department of Neurology, University of São Paulo (USP-RP), Ribeirão Preto, Brazil.
Montecchiani C; Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy.
Orlacchio A; Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.
Pedroso JL; Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Barsottini OGP; Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Lopes-Cendes Í; Department of Medical Genetics, University of Campinas (UNICAMP), Campinas, Brazil.
França MC; Department of Neurology, University of Campinas (UNICAMP), Campinas, Brazil. Electronic address: mcfrancajr@uol.com.br.

Neuroimage Clin ; 19: 848-857, 2018.

Article en En | MEDLINE | ID: mdl-29946510

Asunto(s)

Ganglios Basales/diagnóstico por imagen; Mutación; Proteínas/genética; Paraplejía Espástica Hereditaria/genética; Sustancia Blanca/diagnóstico por imagen; Adolescente; Adulto; Imagen de Difusión Tensora; Femenino; Humanos; Imagen por Resonancia Magnética; Masculino; Persona de Mediana Edad; Neuroimagen; Pruebas Neuropsicológicas; Paraplejía Espástica Hereditaria/diagnóstico por imagen; Adulto Joven

Palabras clave

ACE-R, Addenbrooke's Cognitive Examination Revised; ALS, amyotrophic lateral sclerosis; CA, cord area; CE, cord eccentricity; CMAP, compound muscle action potential; CST, corticospinal tract; Complicated hereditary spastic paraplegia; DTI, diffusion tensor imaging; FA, fractional anisotropy; GM, grey matter; Grey matter; HSP, hereditary spastic paraplegia; LH, left hemisphere; MD, mean diffusivity; MOCA, Montreal cognitive assessment; Motor neuron disorder; NPI, neuropsychiatric inventory; PNP, sensory-motor polyneuropathy; PNS, peripheral nervous system; RH, right hemisphere; ROI, region of interest; SC, spinal cord; SNAP, sensory nerve action potential; SPG11; SPRS, Spastic Paraplegia Rating Scale; STS, cortex adjacent to the superior temporal sulcus; Spinal cord; Thinning of the corpus callosum; WES, whole exome sequencing; WM, white matter; White matter

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ganglios Basales / Paraplejía Espástica Hereditaria / Proteínas / Sustancia Blanca / Mutación Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neuroimage Clin Año: 2018 Tipo del documento: Article País de afiliación: Brasil

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