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Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

MedGen UID:: 376519
•Concept ID:: C1849112
•: Disease or Syndrome

Synonyms:	Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss; Spastic quadriplegia retinitis pigmentosa mental retardation; SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND IMPAIRED INTELLECTUAL DEVELOPMENT; SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0010051
OMIM®:	270950
Orphanet:	ORPHA3011

Definition

A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976. [from ORDO]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

Spastic tetraplegia

MedGen UID:: 98433
•Concept ID:: C0426970
•: Disease or Syndrome

Spastic paralysis affecting all four limbs.

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Visual loss

MedGen UID:: 784038
•Concept ID:: C3665386
•: Finding

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

See: Feature record | Search on this feature

Rod-cone dystrophy

MedGen UID:: 1632921
•Concept ID:: C4551714
•: Disease or Syndrome

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

See: Feature record | Search on this feature

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Abnormality of the eye
- Rod-cone dystrophy
- Visual loss
Abnormality of the nervous system
- Intellectual disability
- Spastic tetraplegia
Ear malformation
- Hearing impairment

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSpastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Syndromic retinitis pigmentosa
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Follow this link to review classifications for Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome in Orphanet.

Professional guidelines

PubMed

Spasticity evaluation and management tools.

Howard IM, Patel AT
Muscle Nerve 2023 Apr;67(4):272-283. Epub 2023 Feb 19 doi: 10.1002/mus.27792. PMID: 36807901

Brazilian practice guidelines for stroke rehabilitation: Part II.

Minelli C, Luvizutto GJ, Cacho RO, Neves LO, Magalhães SCSA, Pedatella MTA, Mendonça LIZ, Ortiz KZ, Lange MC, Ribeiro PW, Souza LAPS, Milani C, Cruz DMCD, Costa RDMD, Conforto AB, Carvalho FMM, Ciarlini BS, Frota NAF, Almeida KJ, Schochat E, Oliveira TP, Miranda C, Piemonte MEP, Lopes LCG, Lopes CG, Tosin MHS, Oliveira BC, Oliveira BGRB, Castro SS, Andrade JBC, Silva GS, Pontes-Neto OM, Carvalho JJF, Martins SCO, Bazan R
Arq Neuropsiquiatr 2022 Jul;80(7):741-758. Epub 2022 Sep 29 doi: 10.1055/s-0042-1757692. PMID: 36254447 Free PMC Article

Multiple sclerosis and migraine: Links, management and implications.

Mrabet S, Wafa M, Giovannoni G
Mult Scler Relat Disord 2022 Dec;68:104152. Epub 2022 Aug 29 doi: 10.1016/j.msard.2022.104152. PMID: 36058193

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Recent clinical studies

Etiology

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Lewerissa EI, Nadif Kasri N, Linda K
Autophagy 2024 Jan;20(1):15-28. Epub 2023 Sep 6 doi: 10.1080/15548627.2023.2250217. PMID: 37674294 Free PMC Article

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J
Mov Disord 2022 Jun;37(6):1175-1186. Epub 2022 Feb 12 doi: 10.1002/mds.28959. PMID: 35150594 Free PMC Article

Rhomboencephalosynapsis: Review of the Literature.

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048 Free PMC Article

Wortmann SB, Mayr JA
J Inherit Metab Dis 2019 Mar;42(2):237-242. Epub 2019 Jan 25 doi: 10.1002/jimd.12011. PMID: 30681159 Free PMC Article

See all (189)

Diagnosis

Tropical spastic paraparesis.

Román GC
Handb Clin Neurol 2023;196:149-156. doi: 10.1016/B978-0-323-98817-9.00026-0. PMID: 37620067

A Diagnostic Approach to Spastic ataxia Syndromes.

Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP
Cerebellum 2022 Dec;21(6):1073-1084. Epub 2021 Nov 15 doi: 10.1007/s12311-021-01345-5. PMID: 34782953

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

MEGDEL Syndrome.

Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373

Hereditary Myelopathies.

Hedera P
Continuum (Minneap Minn) 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. PMID: 29613898

See all (338)

Therapy

Intranasal human-recombinant NGF administration improves outcome in children with post-traumatic unresponsive wakefulness syndrome.

Gatto A, Capossela L, Conti G, Eftimiadi G, Ferretti S, Manni L, Curatola A, Graglia B, Di Sarno L, Calcagni ML, Di Giuda D, Cecere S, Romeo DM, Soligo M, Picconi E, Piastra M, Della Marca G, Staccioli S, Ruggiero A, Cocciolillo F, Pulitanò S, Chiaretti A
Biol Direct 2023 Oct 3;18(1):61. doi: 10.1186/s13062-023-00418-1. PMID: 37789391 Free PMC Article

Brazilian practice guidelines for stroke rehabilitation: Part II.

Stiff Person Syndrome.

Saigal R, Goyal L, Yadav R, Agrawal A, Mital P, Patel B
J Assoc Physicians India 2015 Aug;63(8):81-2. PMID: 27604442

Botulinum Toxin Type A for the Treatment of Neuropathic Pain in Neuro-Rehabilitation.

Intiso D, Basciani M, Santamato A, Intiso M, Di Rienzo F
Toxins (Basel) 2015 Jun 30;7(7):2454-80. doi: 10.3390/toxins7072454. PMID: 26134256 Free PMC Article

Spasticity treatment with botulinum toxins.

Ward AB
J Neural Transm (Vienna) 2008;115(4):607-16. Epub 2008 Apr 4 doi: 10.1007/s00702-007-0833-2. PMID: 18389166

See all (82)

Prognosis

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C
Brain 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. PMID: 38217872 Free PMC Article

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831 Free PMC Article

Multiple sclerosis and migraine: Links, management and implications.

Mrabet S, Wafa M, Giovannoni G
Mult Scler Relat Disord 2022 Dec;68:104152. Epub 2022 Aug 29 doi: 10.1016/j.msard.2022.104152. PMID: 36058193

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH, Shim SH, Kim M
Clin Genet 2018 Apr;93(4):721-730. Epub 2017 Sep 17 doi: 10.1111/cge.13058. PMID: 28543186

Toward an epidemiology of poststroke spasticity.

Wissel J, Manack A, Brainin M
Neurology 2013 Jan 15;80(3 Suppl 2):S13-9. doi: 10.1212/WNL.0b013e3182762448. PMID: 23319481

See all (140)

Clinical prediction guides

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.

Mariano V, Kanellopoulos AK, Ricci C, Di Marino D, Borrie SC, Dupraz S, Bradke F, Achsel T, Legius E, Odent S, Billuart P, Bienvenu T, Bagni C
Biol Psychiatry 2024 Jan 15;95(2):161-174. Epub 2023 Sep 11 doi: 10.1016/j.biopsych.2023.08.027. PMID: 37704042

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035 Free PMC Article

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI
Am J Med Genet A 2015 Feb;167A(2):296-312. Epub 2015 Jan 16 doi: 10.1002/ajmg.a.36887. PMID: 25604658 Free PMC Article

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Recent systematic reviews

Catatonia and Neuroleptic Malignant Syndrome in Patients With Cerebral Palsy: Two Case Reports and a Systematic Review of the Literature.

Barnett BS, Balaji D, Weleff J, Carroll BT
J Acad Consult Liaison Psychiatry 2023 May-Jun;64(3):277-293. Epub 2022 Dec 28 doi: 10.1016/j.jaclp.2022.12.008. PMID: 36586471

Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F
Eur J Paediatr Neurol 2021 Sep;34:7-13. Epub 2021 Jun 21 doi: 10.1016/j.ejpn.2021.05.013. PMID: 34271245

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D
Hum Mutat 2021 Jun;42(6):762-776. Epub 2021 May 11 doi: 10.1002/humu.24206. PMID: 33847017

Oro-facial functions in experimental models of cerebral palsy: a systematic review.

Lacerda DC, Ferraz-Pereira KN, Bezerra de Morais AT, Costa-de-Santana BJ, Quevedo OG, Manhães-de-Castro R, Toscano AE
J Oral Rehabil 2017 Apr;44(4):251-260. doi: 10.1111/joor.12489. PMID: 28160523

A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force.

Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Solè J
Eur J Neurol 2006 May;13(5):433-44. doi: 10.1111/j.1468-1331.2006.01537.x. PMID: 16722965

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Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity