Disease #00325 (SPG (paraplegia, spastic (SPG)))

Official abbreviation SPG
Name paraplegia, spastic (SPG)
OMIM ID -
Inheritance -
Individuals reported having this disease 127
Phenotype entries for this disease 121
Associated with 9 genes AMFR, CAPN1, DDHD2, HPDL, RNF170, SPAST, SPG11, TECPR2, TMEM63C
Associated tissues -
Disease features -
Remarks -
Date created 2014-02-15 22:29:17 +01:00 (CET)
Date last edited 2016-11-28 13:01:43 +01:00 (CET)


Individuals

127 entries on 2 pages. Showing entries 1 - 100.
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00011663 - PubMed: Bauer 2012 2-generation family, affected brother and sister, unaffected carrier parents - yes Israel Arab - - - - SPG hereditary spastic paraplegia, type 47 (SPG-47); see article AP4B1, CASQ2, CD101, CHIA AP4B1, AP4B1-AS1, CASQ2, CD101, CHIA 5 2 Johan den Dunnen
00039349 - - - F no Greece - - - - - SPG - SPAST SPAST 1 1 David Lynch
00039350 - - - - - Greece - - - - - SPG - SPAST SPAST 1 1 David Lynch
00047000 - - - - - - - - - - - SPG - SPG7 SPG7 1 1 David Lynch
00052956 - - - rM yes China Chinese >30y - - - SPG Pure HSP phenotype including progressive lower limb spasticity, pyramidal weakness with hyperreflexia, extensor plantar reponses, and scissors gait. FARS2 FARS2 1 4 Ying Yang
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) SPAST SPAST 1 1 Christian Beetz
00057796 - PubMed: Varga 2013 5-generation family, 21 affecteds, numerous affected male carriers and several unaffected female carriers (and potentially a few male carriers) F ? United States - - - - - SPG early onset, clinically pure ATL1 ATL1 1 21 Johan den Dunnen
00057833 - PubMed: Varga 2013 4-generation family; 4 homozygous affecteds, third affected sibbling is heterozygous, at least five more family members are heterozygous but unaffected F - Morocco - - - - - SPG subclinical signs ATL1 ATL1 1 4 Johan den Dunnen
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) SPAST SPAST 1 1 Christian Beetz
00059240 - - family, 4 homozygous affecteds (3 siblings, cousin), 5 unaffected heterozygous carriers (incl. parents of all patients), not present in one healthy sibling M yes (France);Sudan - - - yes - SPG spastic paraplegia, hyperreflexia, dysarthria - ALS2 1 4 Mahmoud Koko
00063255 - PubMed: Züchner 2006 2-generation family, 1 affected, parents not tested M - United States European - - - - SPG lower limb weakness (HP:0007340), spastic gait (HP:0002064), no scoliosis (-HP:0002650), positive Babinski sign (HP:0003487), normal cranial/spinal MRI REEP1 REEP1 1 1 Johan den Dunnen
00063256 - PubMed: Züchner 2006 2-generation family, 2 affecteds - - United States European - - - - SPG lower limb weakness (HP:0007340), spastic gait (HP:0002064), ankle clonus (HP:0011448), no scoliosis (-HP:0002650), mild distal sensory neuropathy (HP:0000763), positive Babinski sign (HP:0003487), normal spinal MRI REEP1 REEP1 1 2 Johan den Dunnen
00064665 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents F;M yes Morocco - - - - - SPG see paper; .., lower-extremity spasticity, lower-extremity weakness, lower-extremity hyperreflexia, extensor plantar response, abnormal bladder function, foot deformity, dysarthria, upper extremity hyperreflexia CAPN1 CAPN1 1 3 Johan den Dunnen
00064666 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geneation family, 8 affecteds (2F, 6M), unaffected carrier parents F;M yes Morocco - - - - - SPG see paper; ..., age onset 35/36/22/39/24y, lower-extremity spasticity (5), lower-extremity weakness (3), lower-extremity hyperreflexia (5), extensor plantar response (4), no abnormal bladder function, foot deformity (3), dysarthria (5), upper extremity hyperreflexia (5), sensory abnormalities (1), peripheral neuropathy (2), gait ataxia (1), upper extremity ataxia (1), scoliosis (1), amyotrophy (2), ocular movement abnormalities (1) CAPN1 CAPN1 1 6 Johan den Dunnen
00064667 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geenration family, 2 affecteds (F, M) F;M no United States idaho/Utah - - - - SPG see paper; ..., age at onset 33/19y, lower-extremity spasticity (2), lower-extremity weakness (1), lower-extremity hyperreflexia (1), extensor plantar response (1), abnormal bladder function (1), foot deformity (2), ataxia (1), ankle clonus (1), mild gait ataxia (1), upperextremity hyperreflexia (1), bilateral ankle clonus (1) CAPN1 CAPN1 2 2 Johan den Dunnen
00079371 - PubMed: Novarino 2014 2-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier mother/sibs F;M no - - - - - - SPG see paper; ... MARS MARS 2 1 Guorui Hu
00080781 - - - ? - Germany - - - - - SPG - SPAST SPAST 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) SPAST SPAST 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) SPAST SPAST 1 1 Christian Beetz
00095122 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 3 affected (2F, M), 3 unaffected siblings, unaffected heterozygous carrier parents, patient 786-V-3 M yes - - - - added by student Jente Houweling - SPG thoracic kyphosis (HP:0002942), cerebellar signs (HP:0001317), Pain in extremities (HP:0009763), hyperreflexia (HP:0001347), dysarthria (HP:0001260), borderline personality disorder (HP:0012076), Skeletal muscle atrophy (HP:0003202), Limb fasciculations (-HP:0007289), Impaired vibration sensation at ankles (-HP:0006938), urinary bladder sphincter dysfunction (-HP:0002839), babinski sign (-HP:0003487) ERLIN1 ERLIN1 1 3 Johan den Dunnen
00095125 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 786-V-3 F yes - - - - added by student Jente Houweling - SPG thoracic kyphosis (HP:0002942), cerebellar signs (HP:0001317), hyperreflexia (HP:0001347), dysarthria (-HP:0001260), borderline personality disorder (HP:0012076), Skeletal muscle atrophy (HP:0003202), Limb fasciculations (-HP:0007289), Impaired vibration sensation at ankles (-HP:0006938), urinary bladder sphincter dysfunction (-HP:0002839), babinski sign (-HP:0003487), inability to walk (HP:0002540) ERLIN1 ERLIN1 1 1 Johan den Dunnen
00095138 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents, patient 882IV1 M yes - - - - added by student Eveline Pham - SPG Tip toe walking, Scissors gait, Spasticity, Dysarthria, Borderline intelligence USP8 USP8 1 3 Johan den Dunnen
00095139 - PubMed: Novarino 2014, Journal: Novarino 2014 brother of 882IV1 M yes - - - - added by student Eveline Pham - SPG Tip toe walking and scissors gait, Hypertonic, Spastic gait, Pes equinovarus, Normal cognition USP8 USP8 1 1 Johan den Dunnen
00111199 Pat25 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - Netherlands - - - - - SPG motor neuropathy, ID, mild ataxia AFG3L2 AFG3L2 1 1 Erik-Jan Kamsteeg
00176991 NIJ 2 PubMed: Seong E 2018 - F - Indonesia Javanese 29y - - - SPG Gait difficulties, spastic paraplegia - VPS13D 2 1 Inge Meijer
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 - SPAST 1 7 Teresa Giugliano
00225586 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG pure HSP N4BP1 KIF1A 1 1 Maartje Pennings
00225587 - PubMed: Pennings 2019, Journal: Pennings 2019 - M - - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225589 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225590 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225591 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no Netherlands - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225592 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225593 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225594 - PubMed: Pennings 2019, Journal: Pennings 2019 - M ? - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225610 - PubMed: Pennings 2019, Journal: Pennings 2019 - F no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225611 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225612 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225613 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225614 - PubMed: Pennings 2019, Journal: Pennings 2019 - F no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225615 - PubMed: Pennings 2019, Journal: Pennings 2019 - - no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225616 - PubMed: Pennings 2019, Journal: Pennings 2019 - F no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225617 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225618 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225619 - PubMed: Pennings 2019, Journal: Pennings 2019 - M no - - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00225621 IV-1 PubMed: Bouwkamp 2018 4-generation family, 3 carriers, 2 affected M yes Israel Arab-Bedouin descent - - - - SPG Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability severe (HP:0010864); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258); Hyperreflexia (HP:0001347); Dysarthria (HP:0001260); Seizures (HP:0001250); Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Inguinal hernia (HP:0000023); Recurrent otitis media (HP:0000403) ACO2 ACO2 1 1 Thomas Foulonneau
00225632 IV-3 PubMed: Bouwkamp2018 4-generation family, 4 carriers, 2 affected F yes Israel Arab bedouin descent - - - - SPG Microcephaly (HP:0000252); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability, mild (HP:0001256); Spastic paraplegia (HP:0001258); Lower limb muscle weakness (HP:0007340); Hyperreflexia (HP:0001347); Impaired vibration sensation in the lower limbs (HP:0002166); Behavioral abnormality (HP:0000708); Developmental regression (HP:0002376); Horizontal nystagmus (HP:0000666); Encephalopathy(HP:0001298); Syndactyly (HP:0001159); Hyperlordosis (HP:0003307); Equinovarus deformity (HP:0008110); Limited pronation/supination of forearm (HP:0006394); Abnormality of the cerebral white matter (HP:0002500); Acute mental change ACO2 ACO2 1 1 Thomas Foulonneau
00239769 Fam1 PubMed: Farazi Fard 2019 6-generation family, 31 affected (13F, 18M) F;M no Iran - - - - - SPG - UBAP1 SVEP1, UBAP1 2 31 Johan den Dunnen
00239770 Fam2 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Germany - - - - - SPG - UBAP1 UBAP1 1 1 Johan den Dunnen
00239771 Fam3 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Canada - - - - - SPG - UBAP1 UBAP1 1 1 Johan den Dunnen
00239772 Fam4 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Spain - - - - - SPG - UBAP1 UBAP1 1 1 Johan den Dunnen
00239773 Fam5 PubMed: Farazi Fard 2019 3-generation family, 2 affected, father/son M no Bulgaria gypsy (Roma) - - - - SPG - UBAP1 UBAP1 1 2 Johan den Dunnen
00239774 Fam6 PubMed: Farazi Fard 2019 4-generation family, 7 affected (5F, 2M) F;M no Bulgaria gypsy (Roma) - - - - SPG - UBAP1 UBAP1 1 7 Johan den Dunnen
00239775 Fam7 PubMed: Farazi Fard 2019 4-generation family, 18 affected (14F, 4M) F;M no Germany - - - - - SPG - UBAP1 UBAP1 1 18 Johan den Dunnen
00239776 Fam8 PubMed: Farazi Fard 2019 4-generation family, 4 affected (F, 3M) F;M no United States - - - - - SPG - UBAP1 UBAP1 1 4 Johan den Dunnen
00239777 Fam9 PubMed: Farazi Fard 2019 3-generation family, 2 affected, father/daughter F;M no Germany;Croatia (Hrvatska) - - - - - SPG - UBAP1 UBAP1 1 2 Johan den Dunnen
00239778 Fam10 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Germany;Poland - - - - - SPG - UBAP1 UBAP1 1 1 Johan den Dunnen
00245206 - - - M ? - - 01y - - - SPG - - KIF1A 1 1 Maartje Pennings
00245844 - - - F no Netherlands - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00246691 - - - F no Netherlands - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00246692 - - - M no Netherlands - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00246693 - - - F no Netherlands - - - - - SPG - - KIF1A 1 1 Maartje Pennings
00248838 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - SPAST SPAST 1 1 Johan den Dunnen
00248839 Fam PubMed: Beetz 2006 2 affected - - - - - - - - SPG - SPAST SPAST 1 2 Johan den Dunnen
00248840 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - SPAST SPAST 1 1 Johan den Dunnen
00248841 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - SPAST SPAST 1 1 Johan den Dunnen
00248842 Fam PubMed: Beetz 2006 9 affected - - - - - - - - SPG - SPAST SPAST 1 90 Johan den Dunnen
00248843 Fam PubMed: Beetz 2006 4 affected - - Germany - - - - - SPG - SPAST SPAST 1 4 Johan den Dunnen
00248844 Fam PubMed: Beetz 2006 2 affected - - Austria - - - - - SPG - SPAST SPAST 1 2 Johan den Dunnen
00248845 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - SPAST SPAST 1 1 Johan den Dunnen
00248846 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - SPAST SPAST 1 2 Johan den Dunnen
00248847 Fam PubMed: Beetz 2006 - - - - - - - - - SPG - SPAST SPAST 1 1 Johan den Dunnen
00248848 Fam PubMed: Beetz 2006 4 affected - - - - - - - - SPG - SPAST SPAST 1 4 Johan den Dunnen
00248849 Fam PubMed: Beetz 2006 2 affected - - - - - - - - SPG - SPAST SPAST 1 2 Johan den Dunnen
00248850 Fam PubMed: Beetz 2006 2 affected - - - - - - - - SPG - SPAST SPAST 1 2 Johan den Dunnen
00260756 - PubMed: Kong 2013 - F yes Morocco - - - - - SPG The M.bovis BCG lymphadenitis is unlikely to be due to the variant identified in IFNGR1 IFNGR1 IFNGR1 1 2 LOVD
00266121 FamR PubMed: Wang 2016 3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Bangladesh - - - - - SPG see paper; ..., late teens gait ataxia, spasticity, dysphagia; CAPN1 CAPN1 1 2 Johan den Dunnen
00266122 (SAL-584-005 PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - S. Georgia and S. Sandwich Isls. - - - - - SPG see paper; ... CAPN1 CAPN1 1 1 Johan den Dunnen
00266123 FamTun66273/Tun66275 PubMed: Wang 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Tunisia - - - - - SPG see paper; ... CAPN1 CAPN1 1 2 Johan den Dunnen
00266124 Pat PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France;Spain - - - - - SPG see paper; ... CAPN1 CAPN1 2 1 Johan den Dunnen
00274061 P1 PubMed: Wei 2011 - - - China - - - - - SPG - SPG11 SPG11 1 1 Johan den Dunnen
00394995 - - - M ? Canada - - - - - SPG Stature for age Short stature (<-2SD) Head circumference for age Microcephaly (<-3SD) Progressive microcephaly Proportionate short stature. High palate Retrognathia Epicanthus Micrognathia Metopic synostosis Seizures Dystonia Spasticity Quadrispasticity Irritability Encephalopathy Babinski sign Dysmyelinating leukodystrophy Diffuse white matter abnormalities EEG with persistent abnormal rhythmic activity Severe global developmental delay Elevated brain lactate level by MRS Delayed ability to stand Delayed ability to sit Grasp reflex Abnormal eating behavior HPDL HPDL 1 1 Baiba Lace
00408688 Pat33 PubMed: Thomas 2022 affected siblings - no France - - - - - SPG - - REEP1 1 2 Johan den Dunnen
00408689 Pat45 PubMed: Thomas 2022 no family history - no France - - - - - SPG - - KIAA0196 1 1 Johan den Dunnen
00408690 Pat48 PubMed: Thomas 2022 patient, affected father and daughter - no France - - - - - SPG - - BSCL2 1 3 Johan den Dunnen
00408691 Pat59 PubMed: Thomas 2022 patient, affected father, sister and nephew - no France - - - - - SPG - - SPAST 1 4 Johan den Dunnen
00408692 Pat58 PubMed: Thomas 2022 no family history - no France - - - - - SPG - - UBAP1 1 1 Johan den Dunnen
00408705 Pat07 PubMed: Thomas 2022 - - - France - - - - - SPG - - SACS 2 1 Johan den Dunnen
00431235 FamAPat4;R31640 PubMed: Wagner 2019, PubMed: Yepez 2022 3-generation family, affected brother/sister, unaffected heterozygous carrier parents F - Germany - - - - - SPG 20y-loss ambulation; normal motor development; no cognitive deficits; mild optic atrophy; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; no ataxia; mild cervical dystonia; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; 30y-lower limbs no cortical potential - RNF170 1 2 Johan den Dunnen
00431236 FamAPat5 PubMed: Wagner 2019 sister M - Germany - - - - - SPG 22y-loss ambulation; normal motor development; no cognitive deficits; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; vibration/surface/temperature deficits; no ataxia; no extrapyramidal involvement; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; motor evoked potentials upper limbs normal/lower limbs reduced cortical amplitudes; 33y-upper limbs prolonged central latency, lower limbs no cortical potential; MRI cranium/cervical spine normal - RNF170 1 1 Johan den Dunnen
00431237 FamBPat3 PubMed: Wagner 2019 4-generation family, affected brothers/sisters (F, 3M), unaffected heterozygous carrier parents M yes Iran Baluch - - - - SPG 11.5y-loss ambulation; delayed motor development; no cognitive deficits; severe optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; generalized, severe muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI significant cerebellar atrophy - RNF170 1 4 Johan den Dunnen
00431238 FamBPat4 PubMed: Wagner 2019 brother M yes Iran Baluch - - - - SPG still walking; delayed motor development; no cognitive deficits; moderate optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI cerebellar atrophy - RNF170 1 1 Johan den Dunnen
00431239 FamBPat5 PubMed: Wagner 2019 sister F yes Iran Baluch - - - - SPG still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; visually evoked potentials normal; MRI normal - RNF170 1 1 Johan den Dunnen
00431240 FamBPat6 PubMed: Wagner 2019 brother M yes Iran Baluch - - - - SPG still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence - RNF170 1 1 Johan den Dunnen
00431241 FamCPat4;R31640 PubMed: Wagner 2019, PubMed: Yepez 2022 5-generation family, affected nephew/niece, unaffected heterozygous carrier parents F yes Tunisia - - - - - SPG still walking; delayed motor development; no cognitive deficits; no oculomotor abnormalities; no dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; no extensor plantar response; no sensory deficits; no ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; normal sensory evoked potentials; MRI cranium/cervical spine normal - RNF170 1 2 Johan den Dunnen
00431242 FamDPat3 PubMed: Wagner 2019 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Iran Fars - - - - SPG still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal - RNF170 1 2 Johan den Dunnen
00431243 FamDPat4 PubMed: Wagner 2019 brother M yes Iran Fars - - - - SPG still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal - RNF170 1 1 Johan den Dunnen
00435207 - - - - - - - - - - - SPG - SPG11 SPG11 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00444162 - - - M ? Brazil - - - - - SPG - - KIF5A 1 1 Cynthia Silveira
00444163 - - - M ? Brazil - - - - - SPG - - KIF5A 1 1 Cynthia Silveira
00448132 Family 2 - Rad et al., submitted F no Brazil - - - - - CVI, SPG , Bilaterally increased P100 wave latency with normal amplitude - MPDZ 2 1 Barbara Vona
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