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Optic atrophy--spastic paraplegia syndrome

MedGen UID:
326914
•Concept ID:
C1839565
•
Disease or Syndrome
Synonym: Optic Atrophy Spastic Paraplegia Syndrome
 
Monarch Initiative: MONDO:0010700
OMIM®: 311100

Clinical features

From HPO
Spastic paraplegia
MedGen UID:
20882
•Concept ID:
C0037772
•
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
See: Feature record | Search on this feature
Abnormal oral glucose tolerance
MedGen UID:
339758
•Concept ID:
C1847425
•
Finding
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
See: Feature record | Search on this feature
Optic atrophy
MedGen UID:
18180
•Concept ID:
C0029124
•
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Neurosarcoidosis As a Rare Differential Diagnosis for Single Or Multiple Lesions of the Nervous System.
Blume C, Tuleta I, Nolte K, Eichhorn KW, Jakob M, Clusmann H, Send T
Br J Neurosurg 2020 Oct;34(5):495-499. Epub 2018 Oct 8 doi: 10.1080/02688697.2018.1506094. PMID: 30295542

Recent clinical studies

Etiology

Nationwide analysis of neuromyelitis optica in systemic lupus erythematosus and Sjogren's syndrome.
Sami F, Sami SA, Manadan AM, Arora S
Clin Rheumatol 2024 Jan;43(1):59-65. Epub 2023 Nov 18 doi: 10.1007/s10067-023-06809-z. PMID: 37980305
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G
J Med Genet 2021 Jul;58(7):475-483. Epub 2020 Jul 31 doi: 10.1136/jmedgenet-2020-107007. PMID: 32737135
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S
BMC Neurol 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. PMID: 31656170Free PMC Article
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G, Walter JH, Christodoulou J
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S419-23. Epub 2008 Nov 7 doi: 10.1007/s10545-008-0981-z. PMID: 18985435

Diagnosis

PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB
Ophthalmic Genet 2023 Dec;44(6):530-538. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2254830. PMID: 37732399Free PMC Article
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
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Hereditary Myelopathies.
Hedera P
Continuum (Minneap Minn) 2018 Apr;24(2, Spinal Cord Disorders):523-550. doi: 10.1212/CON.0000000000000580. PMID: 29613898

Therapy

MOG encephalomyelitis after vaccination against severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2): case report and comprehensive review of the literature.
Jarius S, Bieber N, Haas J, Wildemann B
J Neurol 2022 Oct;269(10):5198-5212. Epub 2022 Jun 23 doi: 10.1007/s00415-022-11194-9. PMID: 35737110Free PMC Article
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM
Best Pract Res Clin Obstet Gynaecol 2012 Apr;26(2):221-32. Epub 2011 Nov 9 doi: 10.1016/j.bpobgyn.2011.08.003. PMID: 22075441
Intravascular lymphoma mimicking a Vogt-Koyanagi-Harada disease.
Angioi K, Bodaghi B, Kaminsky P, Mokhtari K, Lubetzki C, LeHoang P
Ocul Immunol Inflamm 2011 Apr;19(2):132-4. doi: 10.3109/09273948.2010.531896. PMID: 21428755
Devic-like syndrome in the course of pulmonary tuberculosis.
Rafai MA, Boulaajaj FZ, Gynerane M, El Moutawakkil B, Slassi I
Acta Neurol Belg 2010 Jun;110(2):196-200. PMID: 20873452
Neuromyelitis optica with CSF examination mimicking bacterial meningomyelitis.
Lepur D, Peterković V, Kalabrić-Lepur N
Neurol Sci 2009 Feb;30(1):51-4. Epub 2009 Jan 15 doi: 10.1007/s10072-008-0002-x. PMID: 19145403

Prognosis

Nationwide analysis of neuromyelitis optica in systemic lupus erythematosus and Sjogren's syndrome.
Sami F, Sami SA, Manadan AM, Arora S
Clin Rheumatol 2024 Jan;43(1):59-65. Epub 2023 Nov 18 doi: 10.1007/s10067-023-06809-z. PMID: 37980305
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB
Ophthalmic Genet 2023 Dec;44(6):530-538. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2254830. PMID: 37732399Free PMC Article
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S
BMC Neurol 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. PMID: 31656170Free PMC Article
Costeff syndrome: clinical features and natural history.
Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S
J Neurol 2014 Dec;261(12):2275-82. Epub 2014 Sep 9 doi: 10.1007/s00415-014-7481-x. PMID: 25201222

Clinical prediction guides

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM
Neurol Sci 2022 Feb;43(2):1071-1077. Epub 2021 Jul 23 doi: 10.1007/s10072-021-05462-1. PMID: 34296356Free PMC Article
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S
BMC Neurol 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. PMID: 31656170Free PMC Article
Costeff syndrome: clinical features and natural history.
Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S
J Neurol 2014 Dec;261(12):2275-82. Epub 2014 Sep 9 doi: 10.1007/s00415-014-7481-x. PMID: 25201222
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M
Ann Neurol 2005 May;57(5):730-7. doi: 10.1002/ana.20478. PMID: 15852396

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