Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Hereditary spastic paraplegia 42(SPG42)

MedGen UID:: 393407
•Concept ID:: C2675528
•: Disease or Syndrome

Synonyms:	Spastic Paraplegia 42; Spastic paraplegia 42, autosomal dominant
SNOMED CT:	Autosomal dominant spastic paraplegia type 42 (763070001)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC33A1 (3q25.31)

Monarch Initiative:	MONDO:0012928
OMIM®:	612539
Orphanet:	ORPHA171863

Definition

A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. [from SNOMEDCT_US]

Clinical features

From HPO

Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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

Spastic gait

MedGen UID:: 115907
•Concept ID:: C0231687
•: Finding

Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.

See: Feature record | Search on this feature

Lower limb hyperreflexia

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

See: Feature record | Search on this feature

Muscle weakness

MedGen UID:: 57735
•Concept ID:: C0151786
•: Finding

Reduced strength of muscles.

See: Feature record | Search on this feature

Muscular atrophy

MedGen UID:: 892680
•Concept ID:: C0541794
•: Pathologic Function

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

See: Feature record | Search on this feature

Show all Hide all

Abnormality of limbs
- Pes cavus
Abnormality of the musculoskeletal system
- Muscle weakness
- Muscular atrophy
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary spastic paraplegia 42

Autosomal dominant pure spastic paraplegia
- Hereditary spastic paraplegia 42

Follow this link to review classifications for Hereditary spastic paraplegia 42 in Orphanet.

Professional guidelines

PubMed

Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia.

van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799 Free PMC Article

Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium
J Neurol 2023 Mar;270(3):1702-1712. Epub 2022 Dec 14 doi: 10.1007/s00415-022-11505-0. PMID: 36515702 Free PMC Article

See all (2)

Recent clinical studies

Etiology

Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.

Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr
AJNR Am J Neuroradiol 2021 Mar;42(3):610-615. Epub 2021 Jan 21 doi: 10.3174/ajnr.A7017. PMID: 33478946 Free PMC Article

Hereditary spastic paraplegia.

Murala S, Nagarajan E, Bollu PC
Neurol Sci 2021 Mar;42(3):883-894. Epub 2021 Jan 13 doi: 10.1007/s10072-020-04981-7. PMID: 33439395

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Osmanovic A, Widjaja M, Förster A, Weder J, Wattjes MP, Lange I, Sarikidi A, Auber B, Raab P, Christians A, Preller M, Petri S, Weber RG
J Neurol 2020 Sep;267(9):2732-2743. Epub 2020 May 23 doi: 10.1007/s00415-020-09861-w. PMID: 32447552 Free PMC Article

Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216

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 (25)

Diagnosis

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G
Brain 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. PMID: 34983064

Hereditary spastic paraplegia.

Murala S, Nagarajan E, Bollu PC
Neurol Sci 2021 Mar;42(3):883-894. Epub 2021 Jan 13 doi: 10.1007/s10072-020-04981-7. PMID: 33439395

Nogueira E, Alarcón J, Garma C, Paredes C
Neurol Sci 2021 May;42(5):2091-2094. Epub 2021 Jan 7 doi: 10.1007/s10072-020-04899-0. PMID: 33409823 Free PMC Article

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.

Haj Salem I, Beaudin M, Stumpf M, Estiar MA, Côté PO, Brunet F, Gamache PL, Rouleau GA, Mourabit-Amari K, Gan-Or Z, Dupré N
Can J Neurol Sci 2021 Sep;48(5):655-665. Epub 2021 Jan 5 doi: 10.1017/cjn.2020.277. PMID: 33397523

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 (24)

Therapy

Relationship between brain white matter damage and grey matter atrophy in hereditary spastic paraplegia types 4 and 5.

Tu Y, Liu Y, Fan S, Weng J, Li M, Zhang F, Fu Y, Hu J
Eur J Neurol 2024 Aug;31(8):e16310. Epub 2024 Apr 23 doi: 10.1111/ene.16310. PMID: 38651515 Free PMC Article

Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia.

van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI
Childs Nerv Syst 2024 Mar;40(3):855-861. Epub 2023 Oct 3 doi: 10.1007/s00381-023-06159-w. PMID: 37783799 Free PMC Article

Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia.

Margetis K, Korfias S, Boutos N, Gatzonis S, Themistocleous M, Siatouni A, Dalivigka Z, Flaskas T, Stranjalis G, Boviatsis E, Sakas D
Clin Neurol Neurosurg 2014 Aug;123:142-5. Epub 2014 Jun 4 doi: 10.1016/j.clineuro.2014.05.024. PMID: 24973568

Voiding dysfunction in patients with spastic paraplegia: urodynamic evaluation and response to continuous intrathecal baclofen.

Bushman W, Steers WD, Meythaler JM
Neurourol Urodyn 1993;12(2):163-70. doi: 10.1002/nau.1930120210. PMID: 7920673

See all (4)

Prognosis

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

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

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.

Kerstens HCJW, Satink T, Nijkrake MJ, De Swart BJM, Van Lith BJH, Geurts ACH, Nijhuis-van der Sanden MWG
Disabil Rehabil 2020 Dec;42(26):3744-3751. Epub 2019 May 13 doi: 10.1080/09638288.2019.1610084. PMID: 31079503

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P
J Neurol Neurosurg Psychiatry 2009 Dec;80(12):1402-4. doi: 10.1136/jnnp.2008.167528. PMID: 19917823

See all (16)

Clinical prediction guides

Upper motor neuron signs in primary lateral sclerosis and hereditary spastic paraplegia.

Santos Silva C, Correia Rodrigues C, Fortuna Baptista M, Oliveira Santos M, Gromicho M, Carvalho V, Correia Guedes L, de Carvalho M
Muscle Nerve 2024 Jul;70(1):152-156. Epub 2024 Apr 30 doi: 10.1002/mus.28100. PMID: 38687249

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.

Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr
AJNR Am J Neuroradiol 2021 Mar;42(3):610-615. Epub 2021 Jan 21 doi: 10.3174/ajnr.A7017. PMID: 33478946 Free PMC Article

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr
Eur J Neurol 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. PMID: 26806216

See all (23)

Recent systematic reviews

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D
Hum Mutat 2021 Jun;42(6):762-776. Epub 2021 May 11 doi: 10.1002/humu.24206. PMID: 33847017

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 (2)

MedGen

National Center for Biotechnology Information

Send to:

Hereditary spastic paraplegia 42(SPG42)

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

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity