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Spastic paraplegia 87, autosomal recessive(SPG87)

MedGen UID:
1813069
Concept ID:
C5774182
Disease or Syndrome
Synonym: SPG87
 
Gene (location): TMEM63C (14q24.3)
 
Monarch Initiative: MONDO:0031019
OMIM®: 619966

Definition

Autosomal recessive spastic paraplegia-87 (SPG87) is a neurologic disorder characterized by the onset of lower limb spasticity in infancy or early childhood. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia; the upper limbs and bulbar regions are not affected. Some patients may also have mild intellectual disability or speech problems. Thus, SPG87 can manifest as either a pure or a complex disorder (Tabara et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). [from OMIM]

Clinical features

From HPO
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.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Upper limb spasticity
MedGen UID:
220882
Concept ID:
C1273957
Finding
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Hyperreflexia in upper limbs
MedGen UID:
375112
Concept ID:
C1843175
Finding
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Recent clinical studies

Etiology

Fu JX, Wei Q, Chen YL, Li HF
Clin Genet 2023 Jan;103(1):87-92. Epub 2022 Sep 8 doi: 10.1111/cge.14219. PMID: 36046950
Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC
AJNR Am J Neuroradiol 2019 Jan;40(1):199-203. Epub 2019 Jan 3 doi: 10.3174/ajnr.A5935. PMID: 30606727Free PMC Article
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM
Brain 2009 Jun;132(Pt 6):1577-88. Epub 2009 Mar 31 doi: 10.1093/brain/awp056. PMID: 19339254
Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS
J Neurol Sci 2008 Dec 15;275(1-2):92-9. Epub 2008 Oct 2 doi: 10.1016/j.jns.2008.07.038. PMID: 18835492

Diagnosis

Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC
AJNR Am J Neuroradiol 2019 Jan;40(1):199-203. Epub 2019 Jan 3 doi: 10.3174/ajnr.A5935. PMID: 30606727Free PMC Article
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM
Brain 2009 Jun;132(Pt 6):1577-88. Epub 2009 Mar 31 doi: 10.1093/brain/awp056. PMID: 19339254
Bruyn RP, Scheltens P, Lycklama à Nijeholt J, de Jong JM
Acta Neurol Scand 1993 Jun;87(6):443-5. doi: 10.1111/j.1600-0404.1993.tb04133.x. PMID: 8395130

Prognosis

Zhang X, Xiang F, Li D, Yang F, Yu S, Wang X
BMC Neurol 2024 Jan 2;24(1):15. doi: 10.1186/s12883-023-03480-4. PMID: 38166857Free PMC Article
Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Zhang L, McFarland KN, Jiao J, Jiao Y
BMC Neurol 2016 Jun 3;16:87. doi: 10.1186/s12883-016-0604-5. PMID: 27256065Free PMC Article
Liao X, Luo Y, Zhan Z, Du J, Hu Z, Wang J, Guo J, Hu Z, Yan X, Pan Q, Xia K, Tang B, Shen L
Clin Genet 2015;87(1):85-9. Epub 2014 Jan 26 doi: 10.1111/cge.12336. PMID: 24359114
Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS
J Neurol Sci 2008 Dec 15;275(1-2):92-9. Epub 2008 Oct 2 doi: 10.1016/j.jns.2008.07.038. PMID: 18835492

Clinical prediction guides

Xing F, Du J
Neurol Sci 2022 Aug;43(8):4989-4996. Epub 2022 Mar 28 doi: 10.1007/s10072-022-05921-3. PMID: 35348942
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC
AJNR Am J Neuroradiol 2019 Jan;40(1):199-203. Epub 2019 Jan 3 doi: 10.3174/ajnr.A5935. PMID: 30606727Free PMC Article
Zhang L, McFarland KN, Jiao J, Jiao Y
BMC Neurol 2016 Jun 3;16:87. doi: 10.1186/s12883-016-0604-5. PMID: 27256065Free PMC Article
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM
Brain 2009 Jun;132(Pt 6):1577-88. Epub 2009 Mar 31 doi: 10.1093/brain/awp056. PMID: 19339254

Recent systematic reviews

Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793

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