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Pure hereditary spastic paraplegia

MedGen UID:
581445
•Concept ID:
C0393555
•
Disease or Syndrome
Synonyms: Pure familial spastic paraplegia; pure hereditary spastic paraplegia; Pure HSP; Pure SPG; Uncomplicated familial spastic paraplegia; uncomplicated familial spastic paraplegia; Uncomplicated hereditary spastic paraplegia; uncomplicated hereditary spastic paraplegia; Uncomplicated HSP; uncomplicated HSP; uncomplicated SPG; Uncomplicated SPG
SNOMED CT: Pure hereditary spastic paraplegia (230260007)
 
Monarch Initiative: MONDO:0015149
Orphanet: ORPHA102012

Professional guidelines

PubMed

Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia.
de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC
J Rehabil Med 2015 Feb;47(2):147-53. doi: 10.2340/16501977-1909. PMID: 25325386

Recent clinical studies

Etiology

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.
Navas-Sánchez FJ, Marcos-Vidal L, de Blas DM, Fernández-Pena A, Alemán-Gómez Y, Guzmán-de-Villoria JA, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M
J Neurol 2022 Jun;269(6):3189-3203. Epub 2022 Jan 9 doi: 10.1007/s00415-021-10933-8. PMID: 34999956
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M
J Neurol 2021 Jul;268(7):2429-2440. Epub 2021 Jan 28 doi: 10.1007/s00415-020-10387-4. PMID: 33507371
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Polymeris AA, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A, Gika AD, Youroukos S, Skouteli E, Santorelli FM, Pons R
J Neurol 2016 Aug;263(8):1604-11. Epub 2016 Jun 3 doi: 10.1007/s00415-016-8179-z. PMID: 27260292
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
Wei QQ, Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Burgunder J, Shang HF
Parkinsonism Relat Disord 2014 Aug;20(8):845-9. Epub 2014 May 2 doi: 10.1016/j.parkreldis.2014.04.021. PMID: 24824479
Pure hereditary spastic paraplegia.
Reid E
J Med Genet 1997 Jun;34(6):499-503. doi: 10.1136/jmg.34.6.499. PMID: 9192272Free PMC Article

Diagnosis

MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.
Selçuk E, Kırımtay K, Temizci B, Akarsu Ş, Everest E, Baslo MB, Demirkıran M, Yapıcı Z, Karabay A
Mol Genet Genomics 2022 Jul;297(4):1141-1150. Epub 2022 Jun 15 doi: 10.1007/s00438-022-01910-5. PMID: 35704118
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Polymeris AA, Tessa A, Anagnostopoulou K, Rubegni A, Galatolo D, Dinopoulos A, Gika AD, Youroukos S, Skouteli E, Santorelli FM, Pons R
J Neurol 2016 Aug;263(8):1604-11. Epub 2016 Jun 3 doi: 10.1007/s00415-016-8179-z. PMID: 27260292
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
Wei QQ, Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Burgunder J, Shang HF
Parkinsonism Relat Disord 2014 Aug;20(8):845-9. Epub 2014 May 2 doi: 10.1016/j.parkreldis.2014.04.021. PMID: 24824479
Pure hereditary spastic paraplegia.
Reid E
J Med Genet 1997 Jun;34(6):499-503. doi: 10.1136/jmg.34.6.499. PMID: 9192272Free PMC Article
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders.
Tolosa E, Berciano J
Curr Opin Neurol Neurosurg 1993 Jun;6(3):358-68. PMID: 8507906

Therapy

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.
van Lith BJH, den Boer J, van de Warrenburg BPC, Weerdesteyn V, Geurts AC
J Rehabil Med 2019 Jun 18;51(6):434-441. doi: 10.2340/16501977-2556. PMID: 30968942
Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia.
de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC
J Rehabil Med 2015 Feb;47(2):147-53. doi: 10.2340/16501977-1909. PMID: 25325386

Prognosis

SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F, Chen S, Liu P, Chen X, Luo W
J Hum Genet 2022 Mar;67(3):165-168. Epub 2021 Sep 16 doi: 10.1038/s10038-021-00975-1. PMID: 34526651
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.
Tanti M, Cairns D, Mirza N, McCann E, Young C
Neurogenetics 2020 Oct;21(4):305-308. Epub 2020 Jun 5 doi: 10.1007/s10048-020-00619-0. PMID: 32500351
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
Sensory neuropathy in hereditary spastic paraplegia.
Schady W, Smith CM
J Neurol Neurosurg Psychiatry 1994 Jun;57(6):693-8. doi: 10.1136/jnnp.57.6.693. PMID: 8006649Free PMC Article
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders.
Tolosa E, Berciano J
Curr Opin Neurol Neurosurg 1993 Jun;6(3):358-68. PMID: 8507906

Clinical prediction guides

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.
Navas-Sánchez FJ, Marcos-Vidal L, de Blas DM, Fernández-Pena A, Alemán-Gómez Y, Guzmán-de-Villoria JA, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M
J Neurol 2022 Jun;269(6):3189-3203. Epub 2022 Jan 9 doi: 10.1007/s00415-021-10933-8. PMID: 34999956
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F, Chen S, Liu P, Chen X, Luo W
J Hum Genet 2022 Mar;67(3):165-168. Epub 2021 Sep 16 doi: 10.1038/s10038-021-00975-1. PMID: 34526651
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M
J Neurol 2021 Jul;268(7):2429-2440. Epub 2021 Jan 28 doi: 10.1007/s00415-020-10387-4. PMID: 33507371
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C
Eur J Neurol 2018 Jul;25(7):943-e71. Epub 2018 Apr 15 doi: 10.1111/ene.13625. PMID: 29528531
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders.
Tolosa E, Berciano J
Curr Opin Neurol Neurosurg 1993 Jun;6(3):358-68. PMID: 8507906

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