Disease #00197

Official abbreviation SPG-17
Name paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver)
OMIM ID 270685
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 33
Phenotype entries for this disease 33
Associated with 1 gene BSCL2
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Disease features -
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Individuals

33 entries on 1 page. Showing entries 1 - 33.
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00002774 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG-17 Silver syndrome; spastic paraparesis, amyotrophy hands BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002775 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG-17 Silver syndrome; spastic paraparesis, amyotrophy hands BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002776 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG-17 Silver syndrome; spastic paraparesis, amyotrophy hands BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002777 - PubMed: Windpassinger 2004 - - - Austria - - - - - SPG-17 Silver syndrome; spastic paraparesis, amyotrophy hands BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002778 - PubMed: Windpassinger 2004 - - - Belgium - - - - - SPG-17 Silver syndrome; spastic paraparesis, with distal amyotrophy always starting and predominating in legs BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002779 - PubMed: Windpassinger 2004 - - - Brazil - - - - - SPG-17 Silver syndrome; BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002780 - PubMed: Windpassinger 2004 - - - United Kingdom (Great Britain) - - - - - SPG-17 Silver syndrome; BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002796 - PubMed: van de Warrenburg 2006 3generation family, 5 affecteds - no Netherlands - - - - - SPG-17 Silver syndrome; hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 5 María-Jesús Sobrido
00002797 - PubMed: van de Warrenburg 2006 4generation family, 7 affecteds - no Netherlands - - 0 - - SPG-17 Silver syndrome; hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 7 María-Jesús Sobrido
00002800 - PubMed: Cho 2007 3 generation family, 2 affected sisters, 1 affected son - no Korea, South (Republic) - - 0 - - SPG-17 Silver syndrome; hereditary motor neuropathy, distal (dHMN) BSCL2 BSCL2 1 3 María-Jesús Sobrido
00002801 - PubMed: Bienfait 2007 1 affected ? ? Netherlands - - 0 - - SPG-17 Silver syndrome; hereditary motor neuropathy, distal (dHMN); retained/brisk reflexes BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002804 - PubMed: Rohkamm 2007 - F ? United Kingdom (Great Britain) African - 0 - - SPG-17 Silver syndrome; BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002805 - PubMed: Rohkamm 2007 - - - Germany - - 0 - - SPG-17 Silver syndrome; BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002832 - - - - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); early onset; complicated form: spinal and cerebellar signs BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002835 - - - - - Spain - - - - - SPG-17 spastic paraplegia (SP); late onset, pure SP BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002837 - - - - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); early-onset SP BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002840 - - 1 unaffected carrier parent - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); early-onset SP BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002842 - - - - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); late-onset, pure SP BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002843 - - - - - Spain - - 0 - - SPG-17 SP; SS; dHMN; variability among patients: pure SP, SS, dHMN or subclinical signs BSCL2 BSCL2 1 5 María-Jesús Sobrido
00002845 - - - - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); Silver Syndrome (SS); CMT2; variability among patients, all spectrum of phenotype: pure SP, SS, CMT2 BSCL2 BSCL2 1 6 María-Jesús Sobrido
00002848 - - - - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); early -onset, complicated SP, mild MR, thin corpus callosum BSCL2 BSCL2 1 2 María-Jesús Sobrido
00002849 - - - - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); young-onset SP, complicated form: pyramidal signs, sensory involvement (proprioceptive >tactile/pain), gait ataxia BSCL2 BSCL2 1 5 María-Jesús Sobrido
00002850 - - 1 unaffected carrier parent - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); early-onset SP, complicated form: pyramidal signs, MR, visual impairment BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002852 - - 1 unaffected carrier parent - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); SP, no other clinical data available BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002853 - - 1 unaffected carrier parent - - Spain - - 0 - - SPG-17 spastic paraplegia (SP); early-onset, pure SP BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002856 - PubMed: Irobi et al., Brain 2004 5 generation family, 17 mutationpositive reported - no Belgium - - - - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 17 María-Jesús Sobrido
00002860 - PubMed: Cafforio et al., Neurol. Sci. 2008 2 generation family, 2 mutation positive reported - ? Italy - - 0 - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 2 María-Jesús Sobrido
00002864 - PubMed: Dierick et al., Brain 2008 - ? ? Netherlands - - 0 - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002865 - PubMed: Dierick et al., Brain 2008 - ? ? India - - 0 - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002866 - PubMed: Dierick et al., Brain 2008 - ? ? Belgium - - 0 - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002867 - PubMed: Dierick et al., Brain 2008 - ? ? Switzerland - - 0 - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002898 - PubMed: Kochanski et al., Neurol. Neurochir. 2007 3 generation family, 1 mutation positive reported M ? Poland - - 0 - - SPG-17 Silver syndrome BSCL2 BSCL2, HNRNPUL2-BSCL2 1 1 María-Jesús Sobrido
00002901 - PubMed: RakocevicStojanovic et al., J. Neurol. Sci. 2010 5 generation family, 3 mutation positive reported - no ? (unknown) - - 0 - - SPG-17 SS, dHMN, Asymptomatic BSCL2 BSCL2, HNRNPUL2-BSCL2 1 3 María-Jesús Sobrido
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