Posts Tagged: Hereditary Spastic Paraplegia

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

Loss of AP-5 (SPG48) responsible for a new type of lysosomal storage disease by Hirst et al, Hum Mol Genet 2015

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease by Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner

Loss of AP-5 (SPG48) responsible for a new type of lysosomal storage disease by Hirst et al, Hum Mol Genet 2015

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease by Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting, Klebe et al, Rev Neurol 2015

REVUE NEUROLOGIQUE (Paris), 2015 (online May 22) Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting (review). by Klebe S, Stevanin G & Depienne C. Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting, Klebe et al, Rev Neurol 2015

REVUE NEUROLOGIQUE (Paris), 2015 (online May 22) Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting (review). by Klebe S, Stevanin G & Depienne C. Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders

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,

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Abstract Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Abstract Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating