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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 77"
Page 1
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC. Pascual B, et al. AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3. AJNR Am J Neuroradiol. 2019. PMID: 30606727 Free PMC article.
BACKGROUND AND PURPOSE: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing S …
BACKGROUND AND PURPOSE: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic par …
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study.
Simonsen CS, Celius EG, Brunborg C, Tallaksen C, Eriksen EF, Holmøy T, Moen SM. Simonsen CS, et al. BMC Neurol. 2016 Dec 5;16(1):252. doi: 10.1186/s12883-016-0771-4. BMC Neurol. 2016. PMID: 27919248 Free PMC article.
The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients with the non-inflammatory neurological diseases Hereditary Spastic Paraplegia (HSP) and Hereditary Ataxia (HA). M …
The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients w …
Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.
Nam DE, Yoo DH, Choi SS, Choi BO, Chung KW. Nam DE, et al. Genes Genomics. 2018 Jan;40(1):77-84. doi: 10.1007/s13258-017-0612-x. Epub 2017 Oct 10. Genes Genomics. 2018. PMID: 29892902
Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2). ...Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p.Leu558Pro was d …
Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Mar …
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J. Zech M, et al. Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29. Parkinsonism Relat Disord. 2020. PMID: 32629324
INTRODUCTION: The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. To date, only four families with biallelic missense variants in MAG have been reported. ...RESULTS: In all case subjects, we d …
INTRODUCTION: The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia …
Quantifiable evaluation of cerebellar signs in children.
Filipovic Pierucci A, Mariotti C, Panzeri M, Giunti P, Boesch S, Schulz JB, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS Study Group. Filipovic Pierucci A, et al. Neurology. 2015 Mar 24;84(12):1225-32. doi: 10.1212/WNL.0000000000001403. Epub 2015 Feb 25. Neurology. 2015. PMID: 25716360
OBJECTIVE: To validate, examine the internal validity, and adapt to children the electronic version of the composite cerebellar functional severity (CCFS) score. METHODS: In this multicenter study, we compared the validated manual device with the new electronic version (n …
OBJECTIVE: To validate, examine the internal validity, and adapt to children the electronic version of the composite cerebellar functional s …
Cardiomyopathy in motor neuron diseases.
Gdynia HJ, Kurt A, Endruhn S, Ludolph AC, Sperfeld AD. Gdynia HJ, et al. J Neurol Neurosurg Psychiatry. 2006 May;77(5):671-3. doi: 10.1136/jnnp.2005.078600. J Neurol Neurosurg Psychiatry. 2006. PMID: 16614031 Free PMC article.
In amyotrophic lateral sclerosis (ALS) abnormalities of the autonomic nervous system affecting cardiac function have been described, for the hereditary spastic paraplegias (HSP) comparable manifestations are unknown. This study observed ALS and HSP patients w …
In amyotrophic lateral sclerosis (ALS) abnormalities of the autonomic nervous system affecting cardiac function have been described, for the …