Posts Tagged: spastic paraplegia

KIF1C mutations account for ataxia in Charolais cattle

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.  by Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré

KIF1C mutations account for ataxia in Charolais cattle

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.  by Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré

Une cible thérapeutique potentielle pour la paraplégie spastique SPG11 ou sclérose latérale amyotrophique 5 visant les gangliosides

La paraplégie spastique héréditaire de type 11 et ses pathologiques alléliques comme la sclérose latérale amyotrophique juvénile de type 5 ou certains cas de neuropathie de Charcot-Marie-Tooth, sont des maladies génétiques rares touchant les motoneurones, neurones responsables de la transmission

Une cible thérapeutique potentielle pour la paraplégie spastique SPG11 ou sclérose latérale amyotrophique 5 visant les gangliosides

La paraplégie spastique héréditaire de type 11 et ses pathologiques alléliques comme la sclérose latérale amyotrophique juvénile de type 5 ou certains cas de neuropathie de Charcot-Marie-Tooth, sont des maladies génétiques rares touchant les motoneurones, neurones responsables de la transmission

Tools developed to help in the diagnosis of spastic paraplegia 56, by Durand et al Human Mutation 2017

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G,

Tools developed to help in the diagnosis of spastic paraplegia 56, by Durand et al Human Mutation 2017

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G,

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Branchu et al, Neurobiol dis 2017

Neurobiology of Disease; Volume 102, June 2017, Pages 21–37 Highlights • Spg11 knockout mouse recapitulates the motor and cognitive symptoms observed in patients. • Spg11 knockout mouse presents neurodegeneration in cortex, cerebellum, hippocampus and spinal cord. • Loss of spatacsin, the

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Branchu et al, Neurobiol dis 2017

Neurobiology of Disease; Volume 102, June 2017, Pages 21–37 Highlights • Spg11 knockout mouse recapitulates the motor and cognitive symptoms observed in patients. • Spg11 knockout mouse presents neurodegeneration in cortex, cerebellum, hippocampus and spinal cord. • Loss of spatacsin, the

Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, by Denora, Smets et al, BRAIN 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,  Santorelli

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, by Denora, Smets et al, BRAIN 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions By Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P,  Santorelli

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Coutelier et al, Brain 2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F,

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Coutelier et al, Brain 2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F,