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Quoted phrase not found in phrase index: "Spastic paraplegia 87, autosomal recessive"
Page 1
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J. Du J. J Clin Neurosci. 2021 Mar;85:67-71. doi: 10.1016/j.jocn.2020.11.036. Epub 2021 Jan 15. J Clin Neurosci. 2021. PMID: 33581793
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscap …
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary sp …
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F, Du J. Xing F, et al. Neurol Sci. 2022 Aug;43(8):4989-4996. doi: 10.1007/s10072-022-05921-3. Epub 2022 Mar 28. Neurol Sci. 2022. PMID: 35348942
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts, and more than 80 HSP loci have been mapped to cause HSP. ...
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative disorders affecting the cortico …
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Erichsen AK, et al. Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31. Brain. 2009. PMID: 19339254
Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spastic paraplegia, 0.6/100 000 for autosomal recessive-hereditary spastic paraplegia and 1.3/100 000 for isolate …
Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spastic …
"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 Spastic …
BACKGROUND AND PURPOSE: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia …
Autosomal recessive paraparesis with amyotrophy of the hands and feet.
Bruyn RP, Scheltens P, Lycklama à Nijeholt J, de Jong JM. Bruyn RP, et al. Acta Neurol Scand. 1993 Jun;87(6):443-5. doi: 10.1111/j.1600-0404.1993.tb04133.x. Acta Neurol Scand. 1993. PMID: 8395130
We present 2 sibs with autosomal recessive spastic paraparesis and severe amyotrophy of the distal limb muscles. ...This syndrome, not having been reported since the papers by Ormerod (5) in 1904 and Holmes (6) in 1905, constitutes another rare, benign, compl …
We present 2 sibs with autosomal recessive spastic paraparesis and severe amyotrophy of the distal limb muscles. ...Thi …
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. Soehn AS, et al. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17. Neurology. 2016. PMID: 27316240 Free PMC article.
OBJECTIVE: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis …
OBJECTIVE: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD: Herein, we desc …