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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

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
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
Sofer S, Schweiger A, Blumkin L, Yahalom G, Anikster Y, Lev D, Ben-Zeev B, Lerman-Sagie T, Hassin-Baer S
Am J Med Genet B Neuropsychiatr Genet 2015 Apr;168B(3):197-203. Epub 2015 Feb 5 doi: 10.1002/ajmg.b.32296. PMID: 25657044
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA
J Inherit Metab Dis 2013 Nov;36(6):923-8. Epub 2013 Jan 8 doi: 10.1007/s10545-012-9580-0. PMID: 23296368
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Puech B, Lacour A, Stevanin G, Sautiere BG, Devos D, Depienne C, Denis E, Mundwiller E, Ferriby D, Vermersch P, Defoort-Dhellemmes S
Ophthalmology 2011 Mar;118(3):564-73. Epub 2010 Oct 29 doi: 10.1016/j.ophtha.2010.07.024. PMID: 21035867
Optic neuromyelitis syndrome in Brazilian patients.
Papais-Alvarenga RM, Miranda-Santos CM, Puccioni-Sohler M, de Almeida AM, Oliveira S, Basilio De Oliveira CA, Alvarenga H, Poser CM
J Neurol Neurosurg Psychiatry 2002 Oct;73(4):429-35. doi: 10.1136/jnnp.73.4.429. PMID: 12235313Free PMC Article

Diagnosis

Multiple Sclerosis: An Emergency Medicine-Focused Narrative Review.
Pelletier J, Sugar D, Koyfman A, Long B
J Emerg Med 2024 Apr;66(4):e441-e456. Epub 2023 Dec 15 doi: 10.1016/j.jemermed.2023.12.003. PMID: 38472027
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
Myelopathy following influenza vaccination in inflammatory CNS disorder treated with chronic immunosuppression.
Larner AJ, Farmer SF
Eur J Neurol 2000 Nov;7(6):731-3. doi: 10.1046/j.1468-1331.2000.00149.x. PMID: 11136365

Prognosis

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
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E
Hum Mol Genet 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. PMID: 29547997
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
Optic neuromyelitis syndrome in Brazilian patients.
Papais-Alvarenga RM, Miranda-Santos CM, Puccioni-Sohler M, de Almeida AM, Oliveira S, Basilio De Oliveira CA, Alvarenga H, Poser CM
J Neurol Neurosurg Psychiatry 2002 Oct;73(4):429-35. doi: 10.1136/jnnp.73.4.429. PMID: 12235313Free PMC Article

Clinical prediction guides

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB
Brain 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. PMID: 38735647Free PMC Article
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
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
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E
Hum Mol Genet 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. PMID: 29547997
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

Recent systematic reviews

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB
Brain 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. PMID: 38735647Free PMC Article

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