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Hereditary spastic paraplegia 27(SPG27)

MedGen UID:: 373203
•Concept ID:: C1836899
•: Disease or Syndrome

Synonym:	Spastic paraplegia 27, autosomal recessive
SNOMED CT:	Autosomal recessive spastic paraplegia type 27 (778030005)
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:0012181
OMIM®:	609041
Orphanet:	ORPHA101007

Definition

A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. [from SNOMEDCT_US]

Clinical features

From HPO

Spastic/hyperactive bladder

MedGen UID:: 373204
•Concept ID:: C1836904
•: Finding

See: Feature record | Search on this feature

Dysarthria

MedGen UID:: 8510
•Concept ID:: C0013362
•: Mental or Behavioral Dysfunction

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

See: Feature record | Search on this feature

Babinski sign

MedGen UID:: 19708
•Concept ID:: C0034935
•: Finding

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.

See: Feature record | Search on this feature

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

Lower limb spasticity

MedGen UID:: 220865
•Concept ID:: C1271100
•: Finding

Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.

See: Feature record | Search on this feature

Lower limb hyperreflexia

MedGen UID:: 322973
•Concept ID:: C1836696
•: Finding

See: Feature record | Search on this feature

Impaired vibration sensation at ankles

MedGen UID:: 343107
•Concept ID:: C1854372
•: Finding

A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.

See: Feature record | Search on this feature

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Abnormality of the genitourinary system
- Spastic/hyperactive bladder
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary spastic paraplegia 27

Pure or complex autosomal recessive spastic paraplegia
- Hereditary spastic paraplegia 27

Follow this link to review classifications for Hereditary spastic paraplegia 27 in Orphanet.

Professional guidelines

PubMed

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.

Aleksovska K, Kobulashvili T, Costa J, Zimmermann G, Ritchie K, Reinhard C, Vignatelli L, Fanciulli A, Damian M, Pavlakova L, Burgunder JM, Kopishinskaya S, Rakusa M, Kovacs N, Erdogan FF, Linton LR, Copetti M, Lamperti C, Servidei S, Evangelista T, Ayme S, Pareyson D, Sellner J, Krarup C, de Visser M, van den Bergh P, Toscano A, Graessner H, Berger T, Bassetti C, Vidailhet M, Trinka E, Deuschl G, Federico A, Leone MA
Eur J Neurol 2022 Jun;29(6):1571-1586. Epub 2022 Mar 23 doi: 10.1111/ene.15267. PMID: 35318776

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S
Brain 2008 Apr;131(Pt 4):1078-86. Epub 2008 Mar 5 doi: 10.1093/brain/awn026. PMID: 18321925 Free PMC Article

See all (2)

Recent clinical studies

Etiology

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Brankovic M, Ivanovic V, Basta I, Khang R, Lee E, Stevic Z, Ralic B, Tubic R, Seo G, Markovic V, Bozovic I, Svetel M, Marjanovic A, Veselinovic N, Mesaros S, Jankovic M, Savic-Pavicevic D, Jovin Z, Novakovic I, Lee H, Peric S
Neurogenetics 2024 Jul;25(3):165-177. Epub 2024 Mar 19 doi: 10.1007/s10048-024-00755-x. PMID: 38499745

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

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.

Servelhere KR, Rezende TJR, de Lima FD, de Brito MR, de França Nunes RF, Casseb RF, Pedroso JL, Barsottini OGP, Cendes F, França MC Jr
Mov Disord 2021 Jul;36(7):1644-1653. Epub 2021 Feb 11 doi: 10.1002/mds.28519. PMID: 33576112

Urological dysfunction in patients with hereditary spastic paraplegia.

Joussain C, Levy J, Charlanes A, Even A, Falcou L, Chartier Kastler E, Denys P
Neurourol Urodyn 2019 Apr;38(4):1081-1085. Epub 2019 Mar 8 doi: 10.1002/nau.23957. PMID: 30848841

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.

Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

See all (44)

Diagnosis

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.

Siow SF, Yeow D, Rudaks LI, Jia F, Wali G, Sue CM, Kumar KR
Genes (Basel) 2023 Sep 3;14(9) doi: 10.3390/genes14091756. PMID: 37761896 Free PMC Article

Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.

Heinrich F, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Radelfahr F, Schönfelder E, Gardt P, Mohajer-Peseschkian T, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Schöffski O, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O
J Neurol 2023 Oct;270(10):4922-4938. Epub 2023 Jun 25 doi: 10.1007/s00415-023-11811-1. PMID: 37356024 Free PMC Article

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D
Mov Disord 2022 Dec;37(12):2440-2446. Epub 2022 Sep 14 doi: 10.1002/mds.29225. PMID: 36103453 Free PMC Article

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.

Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

See all (44)

Therapy

Gait-Adaptability Training in People With Hereditary Spastic Paraplegia: A Randomized Clinical Trial.

van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J
Neurorehabil Neural Repair 2023 Jan;37(1):27-36. Epub 2023 Jan 25 doi: 10.1177/15459683221147839. PMID: 36695288 Free PMC Article

Potential markers for sample size estimations in hereditary spastic paraplegia type 5.

Lin Q, Liu Y, Ye Z, Hu J, Cai W, Weng Q, Chen WJ, Wang N, Cao D, Lin Y, Fu Y
Orphanet J Rare Dis 2021 Sep 19;16(1):391. doi: 10.1186/s13023-021-02014-w. PMID: 34538260 Free PMC Article

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.

Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G
Trends Mol Med 2021 Jun;27(6):520-523. Epub 2021 Mar 10 doi: 10.1016/j.molmed.2021.02.004. PMID: 33714697 Free PMC Article

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F
Brain 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297. PMID: 29228183

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R
Brain 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. PMID: 29126212 Free PMC Article

See all (12)

Prognosis

Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.

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

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Jia X, Madireddy L, Caillier S, Santaniello A, Esposito F, Comi G, Stuve O, Zhou Y, Taylor B, Kilpatrick T, Martinelli-Boneschi F, Cree BAC, Oksenberg JR, Hauser SL, Baranzini SE
Ann Neurol 2018 Jul;84(1):51-63. Epub 2018 Jul 3 doi: 10.1002/ana.25263. PMID: 29908077 Free PMC Article

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P
JAMA Neurol 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. PMID: 23400676

Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.

Siam A, Brancale A, Simons C
J Mol Model 2012 Feb;18(2):441-53. Epub 2011 May 4 doi: 10.1007/s00894-011-1084-6. PMID: 21541746

See all (7)

Clinical prediction guides

Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X, Duan X, Zhang Y, Sun A, Fan D
Eur J Neurol 2020 Jul;27(7):1319-1326. Epub 2020 May 12 doi: 10.1111/ene.14260. PMID: 32298515

Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.

Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X
Neurol Res 2018 Dec;40(12):1088-1093. doi: 10.1080/01616412.2018.1522412. PMID: 30352018

Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.

Luo Y, Chen C, Zhan Z, Wang Y, Du J, Hu Z, Liao X, Zhao G, Wang J, Yan X, Jiang H, Pan Q, Xia K, Tang B, Shen L
Neurodegener Dis 2014;14(4):176-83. Epub 2014 Oct 22 doi: 10.1159/000365513. PMID: 25341883

See all (21)

Recent systematic reviews

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.

Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

See all (2)

MedGen

National Center for Biotechnology Information

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Hereditary spastic paraplegia 27(SPG27)

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

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