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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. ...These results raise awareness to this rare disease, facilitate an early …
ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive …
Intrathecal baclofen for progressive neurological disease in childhood: a systematic review of literature.
Bonouvrié LA, van Schie PE, Becher JG, van Ouwerkerk WJ, Vermeulen RJ. Bonouvrié LA, et al. Eur J Paediatr Neurol. 2012 May;16(3):279-84. doi: 10.1016/j.ejpn.2011.07.008. Epub 2011 Oct 19. Eur J Paediatr Neurol. 2012. PMID: 22015172 Review.
BACKGROUND: Intrathecal baclofen (ITB) treatment is frequently used for individuals with severe, but non-progressive, spasticity refractory to oral treatment. However, experiences with ITB in patients with progressive neurological disorders of childhood causing spas …
BACKGROUND: Intrathecal baclofen (ITB) treatment is frequently used for individuals with severe, but non-progressive, spasticity …
Cervical spondylotic myelopathy: a review of the evidence.
Klineberg E. Klineberg E. Orthop Clin North Am. 2010 Apr;41(2):193-202. doi: 10.1016/j.ocl.2009.12.010. Orthop Clin North Am. 2010. PMID: 20399358 Review.
This disease is also the most common cause of acquired spasticity in later life and may lead to progressive spasticity and neurologic decline. This article explores some of the controversies about CSM and reviews pertinent articles, specifically prospective and r …
This disease is also the most common cause of acquired spasticity in later life and may lead to progressive spasticity and neu …
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Variants segregated with a phenotype of mainly pure but also complex HSP consisting of global developmental delay, mild intellectual disability, motor dysfunction, and progressive spasticity. Patient-derived fibroblasts, neural stem cells (NSCs), and in vivo zebrafi …
Variants segregated with a phenotype of mainly pure but also complex HSP consisting of global developmental delay, mild intellectual disabil …
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.
Ardolino G, Bocci T, Nigro M, Vergari M, Di Fonzo A, Bonato S, Cogiamanian F, Cortese F, Cova I, Barbieri S, Priori A. Ardolino G, et al. J Spinal Cord Med. 2021 Jan;44(1):46-53. doi: 10.1080/10790268.2018.1543926. Epub 2018 Dec 3. J Spinal Cord Med. 2021. PMID: 30508408 Free PMC article. Clinical Trial.
Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and lower limb weakness. We assessed the effects of transcutaneous spinal direct current stimulation (tsDCS) in HSP. …
Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases characterized by progressiv …
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.
Qiu YS, Zeng YH, Yuan RY, Ye ZX, Bi J, Lin XH, Chen YJ, Wang MW, Liu Y, Yao SB, Chen YK, Jiang JY, Lin Y, Lin X, Wang N, Fu Y, Chen WJ. Qiu YS, et al. BMJ Open. 2022 Jan 11;12(1):e054011. doi: 10.1136/bmjopen-2021-054011. BMJ Open. 2022. PMID: 35017251 Free PMC article.
More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical features, including progressive spasticity in the lower limbs, though HSPs are heterogeneous (eg, clinical signs, MRI fe …
More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical f …
Misdiagnosis: CNS Erdheim-Chester disease mimicking CLIPPERS.
Berkman J, Ford C, Johnson E, Malow BA, Aulino JM. Berkman J, et al. Neuroradiol J. 2018 Aug;31(4):399-402. doi: 10.1177/1971400917710251. Epub 2017 Jul 7. Neuroradiol J. 2018. PMID: 28685649 Free PMC article.
Case report A 52-year-old male presented with 2 years of progressive spasticity, dysarthria, and gait instability. Initially, he was diagnosed with Parkinson's disease at an outside hospital, based on tremor, rigidity, and gait instability; however, he failed to imp …
Case report A 52-year-old male presented with 2 years of progressive spasticity, dysarthria, and gait instability. Initially, …
Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Talaverón-Rey M, Álvarez-Córdoba M, Villalón-García I, Povea-Cabello S, Suárez-Rivero JM, Gómez-Fernández D, Romero-González A, Suárez-Carrillo A, Munuera-Cabeza M, Cilleros-Holgado P, Reche-López D, Piñero-Pérez R, Sánchez-Alcázar JA. Talaverón-Rey M, et al. Orphanet J Rare Dis. 2023 Apr 12;18(1):80. doi: 10.1186/s13023-023-02687-5. Orphanet J Rare Dis. 2023. PMID: 37046296 Free PMC article.
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common the accumulation of iron in the basal nuclei of the brain which are essential components of the extrapyramidal system. Frequent symptoms are …
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common th …
Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Álvarez-Córdoba M, Reche-López D, Cilleros-Holgado P, Talaverón-Rey M, Villalón-García I, Povea-Cabello S, Suárez-Rivero JM, Suárez-Carrillo A, Munuera-Cabeza M, Piñero-Pérez R, Sánchez-Alcázar JA. Álvarez-Córdoba M, et al. Orphanet J Rare Dis. 2022 Aug 9;17(1):311. doi: 10.1186/s13023-022-02465-9. Orphanet J Rare Dis. 2022. PMID: 35945593 Free PMC article.
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychia …
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron …
Neurological deterioration in adult phenylketonuria.
Villasana D, Butler IJ, Williams JC, Roongta SM. Villasana D, et al. J Inherit Metab Dis. 1989;12(4):451-7. doi: 10.1007/BF01802042. J Inherit Metab Dis. 1989. PMID: 2516176
A 28-year-old man with classical phenylketonuria had increased seizure frequency and rapidly progressive spasticity. There was a marked reduction of biogenic amine neurotransmitter metabolites in cerebrospinal fluid. ...
A 28-year-old man with classical phenylketonuria had increased seizure frequency and rapidly progressive spasticity. There was …
19 results