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Autosomal recessive spastic paraplegia type 59

MedGen UID:
1669596
•Concept ID:
C4750857
•
Disease or Syndrome
Synonyms: autosomal recessive spastic paraplegia type 59; SPG59
SNOMED CT: Autosomal recessive spastic paraplegia type 59 (773425000)
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:0018416
Orphanet: ORPHA401795

Definition

A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal recessive spastic paraplegia type 59

Professional guidelines

PubMed

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
Diomedi M, Gan-Or Z, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA, Gigli GL
Eur J Med Genet 2016 Nov;59(11):564-568. Epub 2016 Oct 8 doi: 10.1016/j.ejmg.2016.10.003. PMID: 27725288

Recent clinical studies

Etiology

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S
Mov Disord 2024 Aug;39(8):1343-1351. Epub 2024 Jun 7 doi: 10.1002/mds.29871. PMID: 38847051
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE
Neuron 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. PMID: 29566793Free PMC Article
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH
Hum Mol Genet 2010 Oct 15;19(20):4091-9. Epub 2010 Aug 4 doi: 10.1093/hmg/ddq323. PMID: 20685689
Bladder dysfunction in hereditary spastic paraplegia: what to expect?
Braschinsky M, Zopp I, Kals M, Haldre S, Gross-Paju K
J Neurol Neurosurg Psychiatry 2010 Mar;81(3):263-6. Epub 2009 Sep 2 doi: 10.1136/jnnp.2009.180331. PMID: 19726407

Diagnosis

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S
Mov Disord 2024 Aug;39(8):1343-1351. Epub 2024 Jun 7 doi: 10.1002/mds.29871. PMID: 38847051
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE
Neuron 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. PMID: 29566793Free PMC Article
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M
Turk J Pediatr 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016. PMID: 29376581
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwaki T, Shibata H
Eur J Med Genet 2016 Aug;59(8):413-6. Epub 2016 May 20 doi: 10.1016/j.ejmg.2016.05.010. PMID: 27216551
Bladder dysfunction in hereditary spastic paraplegia: what to expect?
Braschinsky M, Zopp I, Kals M, Haldre S, Gross-Paju K
J Neurol Neurosurg Psychiatry 2010 Mar;81(3):263-6. Epub 2009 Sep 2 doi: 10.1136/jnnp.2009.180331. PMID: 19726407

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

Prognosis

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwaki T, Shibata H
Eur J Med Genet 2016 Aug;59(8):413-6. Epub 2016 May 20 doi: 10.1016/j.ejmg.2016.05.010. PMID: 27216551

Clinical prediction guides

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwaki T, Shibata H
Eur J Med Genet 2016 Aug;59(8):413-6. Epub 2016 May 20 doi: 10.1016/j.ejmg.2016.05.010. PMID: 27216551

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