Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.

Pashaei, Mahdieh; Davarzani, Atefeh; Hajati, Reza; Zamani, Babak; Nafissi, Shahriar; Larti, Farzaneh; Nilipour, Yalda; Rohani, Mohammad; Alavi, Afagh

Pashaei, Mahdieh; Davarzani, Atefeh; Hajati, Reza; Zamani, Babak; Nafissi, Shahriar; Larti, Farzaneh; Nilipour, Yalda; Rohani, Mohammad; Alavi, Afagh.

Afiliación

Pashaei M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Davarzani A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hajati R; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Zamani B; Neurology Department, Firoozgar hospital, Iran University of Medical Sciences, Tehran, Iran.
Nafissi S; Department of Neurology, Shariati Hospital., Tehran University of Medical Sciences, Tehran, Iran.
Larti F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Nilipour Y; Pediatric Pathology Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Rohani M; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

J Neurogenet ; 35(2): 84-94, 2021.

Article en En | MEDLINE | ID: mdl-33771085

Asunto(s)

Apirasa/genética; Proteínas Portadoras/genética; Familia 7 del Citocromo P450/genética; Paraplejía Espástica Hereditaria/genética; Esteroide Hidroxilasas/genética; Adolescente; Adulto; Niño; Preescolar; Femenino; Humanos; Masculino; Mutación; Linaje; Fenotipo; Paraplejía Espástica Hereditaria/fisiopatología; Secuenciación del Exoma; Adulto Joven

Palabras clave

CYP7B1 (SPG5A); ENTPD1 (SPG64); Hereditary spastic paraplegia (HSP); Whole-exome sequencing (WES); ZFYVE26 (SPG15)

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Apirasa / Esteroide Hidroxilasas / Paraplejía Espástica Hereditaria / Proteínas Portadoras / Familia 7 del Citocromo P450 Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Neurogenet Año: 2021 Tipo del documento: Article País de afiliación: Irán

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