All individuals with variants in gene SPAST

68 entries on 1 page. Showing entries 1 - 68.
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00039349 - - - F no Greece - - - - - SPG - 1 1 David Lynch
00039350 - - - - - Greece - - - - - SPG - 1 1 David Lynch
00039351 - - - - - Greece - - - - - SPG4 - 1 1 David Lynch
00039352 - - - - - Greece - - - - - SPG4 - 1 1 David Lynch
00046990 - - h - - - - - - - - SPG4 - 1 1 David Lynch
00046991 - - - - - - - - - - - SPG4 - 1 1 David Lynch
00046992 - - - - - - - - - - - SPG4 - 1 1 David Lynch
00056433 FamD-W PubMed: Jahic 2016, Journal: Jahic 2016 - F no Germany - - - pedigree - SPG clinical diagnosis of "pure hereditary spastic paraplegia"; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4) 1 1 Christian Beetz
00057909 FamN-16 PubMed: Jahic 2016, Journal: Jahic 2016 - F no Germany - - - pedigree - SPG clinical diagnosis of pure hereditary spastic paraplegia; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4) 1 1 Christian Beetz
00080781 - - - ? - Germany - - - - - SPG - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00089030 - PubMed: Jahic 2017, Journal: Jahic 2017 patientvariant initially described in Beetz et al., 2006, Neurology 67:1926 F no Austria - - - - - SPG diagnosed with "hereditary spastic paraplegia" (pure form) 1 1 Christian Beetz
00089031 - Jahic et al., Human Mutation (submitted Nov 2016), "Doublet-mediated ..." - M no Germany - - - - - SPG diagnosed with "hereditary spastic paraplegia" (pure form) 1 1 Christian Beetz
00089032 - Jahic et al., Human Mutation (submitted Nov 2016), "Doublet-mediated ..." - F no Germany - - - - - - - 1 1 Christian Beetz
00104052 - - - - - Germany - - - - - SPG4 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00144617 - - - M - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00147118 - - - F - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00164713 - - - M - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00174386 - - - F - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00183396 Patient XII (PatIII5) PubMed: Giugliano 2018 4-generation family, 7 affected (4F, 3M) F - Italy - - - - - SPG onset juvenile, hyposthenia, fatigue, proximal muscle weakness lower limbs, normal CPK, EMG mixed 1 7 Teresa Giugliano
00206813 - - - F - - - - - - - ? HP:0001257 (Spasticity) 1 1 IMGAG
00208844 - - - F - Germany - - - - - - HP:0011805 (Abnormality of muscle morphology); HP:0001288 (Gait disturbance); HP:0001324 (Muscle weakness); HP:0011804 (Abnormality of muscle physiology) 1 1 Andreas Laner
00218658 - - - M - - - - - - - ? Spasticity (HP:0001257); Seizures (HP:0001250); Poor motor coordination (HP:0002275) 1 1 IMGAG
00227945 - - - F - - - - - - - ? Ataxia (HP:0001251); Spastic paraplegia (HP:0001258) 1 1 IMGAG
00229649 - - - M - - - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00235339 Fam1PatII1 PubMed: Waters 2019 2-generation pedigree (1 affected male), unaffected heterozygous mother M - Canada French-Canadian >11y - yes - HSD10MD, SPG4 elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine), progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270), dysarthria (HP:0001260) 1 1 Sebastien Levesque
00248838 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - 1 1 Johan den Dunnen
00248839 Fam PubMed: Beetz 2006 2 affected - - - - - - - - SPG - 1 2 Johan den Dunnen
00248840 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - 1 1 Johan den Dunnen
00248841 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - 1 1 Johan den Dunnen
00248842 Fam PubMed: Beetz 2006 9 affected - - - - - - - - SPG - 1 90 Johan den Dunnen
00248843 Fam PubMed: Beetz 2006 4 affected - - Germany - - - - - SPG - 1 4 Johan den Dunnen
00248844 Fam PubMed: Beetz 2006 2 affected - - Austria - - - - - SPG - 1 2 Johan den Dunnen
00248845 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - 1 1 Johan den Dunnen
00248846 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - 1 2 Johan den Dunnen
00248847 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - 1 1 Johan den Dunnen
00248848 Fam PubMed: Beetz 2006 4 affected - - - - - - - - SPG - 1 4 Johan den Dunnen
00248849 Fam PubMed: Beetz 2006 2 affected - - - - - - - - SPG - 1 2 Johan den Dunnen
00248850 Fam PubMed: Beetz 2006 2 affected - - - - - - - - SPG - 1 2 Johan den Dunnen
00262117 - - - M - - - - - - - - Spastic paraparesis (HP:0002313) 1 1 Andreas Laner
00271400 - - - F - - - - - - - ? Spastic tetraplegia (HP:0002510) 1 1 Andreas Laner
00292726 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292727 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292728 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 25 Mohammed Faruq
00295499 - - - F - - - - - - - ? Abnormality of movement (HP:0100022) 1 1 Andreas Laner
00295502 - - - F - - - - - - - ? Spastic paraparesis (HP:0002313); Abnormal muscle tone (HP:0003808) 1 1 Andreas Laner
00295597 - - - M - - - - - - - ? Spastic paraparesis (HP:0002313) 1 1 Andreas Laner
00296563 - - - M - - - - - - - ? Paraplegia/paraparesis (HP:0010551); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258) 1 1 Andreas Laner
00300638 - - - M - Germany - - - - - ? Spastic diplegia (HP:0001264) 1 1 Andreas Laner
00303036 Pat81 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Onset; age onset infantile 1 1 Johan den Dunnen
00308007 - - - M - - - - - - - ? Motor delay (HP:0001270); Paraplegia/paraparesis (HP:0010551) 1 1 Andreas Laner
00311185 - - - M - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00327456 174869 - - M ? Finland - - - - - SPG4 (+) Spastic paraparesis,(+) Lower limb hyperreflexia,(+) Tip-toe gait 1 1 Andreas Laner
00372580 - - - F - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00375652 Pat44 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; dystonic cerebral palsy; dysarthria; dystonic CP, hypotonia, dystonia; hyper-reflexia; MRI brain thin corpus callosum, thalamus signal changes 1 1 Johan den Dunnen
00377068 180310 - - F no Germany - - - - - SPG4 Decreased nerve conduction velocity, Tachycardia, Decreased motor nerve conduction velocity, Abnormal nerve conduction velocity 1 1 Andreas Laner
00384981 - - - F no Italy - - - - - SPG4 spastic paraplegia 1 1 Julia Mela
00395533 189474 - - ? no Germany - - - - - SPG4 Spastic paraparesis, Progressive spastic paraparesis, Spastic paraplegia, Paraplegia (mother also affected) 1 1 Andreas Laner
00408691 Pat59 PubMed: Thomas 2022 patient, affected father, sister and nephew - no France - - - - - SPG - 1 4 Johan den Dunnen
00419495 9115 PubMed: Marinakis 2021 - F - Greece - - - - - ? spastic paraplegia 2 1 Jan Traeger-Synodinos
00419607 20086 PubMed: Marinakis 2021 2-generation family, patient and similarly affected father M - Greece - - - - - ? - 1 2 Jan Traeger-Synodinos
00419608 20174 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00428014 A154 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00428034 A237 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00435106 - - - M no Brazil - - - - - SPG4 HPO:0001257 Spasticity 1 1 Cynthia Silveira
00450516 F084.1/2 Journal: Steyaert 2024 family, affected daughter/mother F - - - - - - - SPG - 1 2 Johan den Dunnen
00451032 Pat2 PubMed: Chen 2024 - M - China - - - - - MD see paper; ..., unable to walk; significantly increased muscle tension, poor activity, joint contracture both lower limbs; X-ray dysplasia hip joints; cognitive impairment, intellectual disability; 2y-dysfunction bladder sphincter evidenced by urinary urgency and urinary incontinence symptoms 1 1 Johan den Dunnen
00455814 Pat54 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00455844 Pat84 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
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