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Spastic paraplegia 11, autosomal recessive(SPG11)

MedGen UID:
388073
Concept ID:
C1858479
Disease or Syndrome
Synonyms: Hereditary spastic paraplegia 11; Hereditary spastic paraplegia mental impairment and thin corpus callosum; Spastic paraplegia 11; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; SPG11; SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SPG11 (15q21.1)
OMIM®: 604360
Orphanet: ORPHA2822

Disease characteristics

Excerpted from the GeneReview: Spastic Paraplegia 11
Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. [from GeneReviews]
Authors:
Giovanni Stevanin  |  Alexandra Dürr  |  Alexis Brice   view full author information

Additional descriptions

From OMIM
Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity. For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).  http://www.omim.org/entry/604360
From GHR
Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves spasticity of the leg muscles and muscle weakness. In almost all individuals with this type of spastic paraplegia, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin. People with this form of spastic paraplegia can also experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia) of the lower limbs; speech difficulties (dysarthria); reduced bladder control; and muscle wasting (amyotrophy). Less common features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), and involuntary movements of the eyes (nystagmus). The onset of symptoms varies greatly; however, abnormalities in muscle tone and difficulty walking usually become noticeable in adolescence.Many features of spastic paraplegia type 11 are progressive. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance.  https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11

Clinical features

Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Spastic gait
MedGen UID:
115907
Concept ID:
C0231687
Finding
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Brain atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Gaze-evoked nystagmus
MedGen UID:
75750
Concept ID:
C0271390
Disease or Syndrome
Motor polyneuropathy
MedGen UID:
82885
Concept ID:
C0271683
Disease or Syndrome
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Knee clonus
MedGen UID:
488908
Concept ID:
C0520823
Finding
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Tip-toe gait
MedGen UID:
334785
Concept ID:
C1843570
Finding
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Degeneration of the lateral corticospinal tracts
MedGen UID:
375921
Concept ID:
C1846566
Finding
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
Concept ID:
C1858285
Finding
Thenar muscle atrophy
MedGen UID:
355274
Concept ID:
C1864715
Finding
Abnormality of the periventricular white matter
MedGen UID:
435926
Concept ID:
C2673431
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Distal peripheral sensory neuropathy
MedGen UID:
867224
Concept ID:
C4021582
Disease or Syndrome
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic paraplegia 11, autosomal recessive
Follow this link to review classifications for Spastic paraplegia 11, autosomal recessive in Orphanet.

Recent clinical studies

Etiology

Garaci F, Toschi N, Lanzafame S, Meschini A, Bertini E, Simonetti G, Santorelli FM, Guerrisi M, Floris R
Int J Neurosci 2014 Apr;124(4):261-70. Epub 2013 Sep 27 doi: 10.3109/00207454.2013.836705. PMID: 23968121
Zhao W, Zhu QY, Zhang JT, Liu H, Wang LJ, Chen ZQ, Guan LP, Huang XS, Yang L, Yu SY
J Neurol Sci 2013 Dec 15;335(1-2):112-7. Epub 2013 Sep 10 doi: 10.1016/j.jns.2013.09.004. PMID: 24090761
de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP
Eur J Hum Genet 2013 Nov;21(11):1312-5. Epub 2013 Feb 27 doi: 10.1038/ejhg.2013.27. PMID: 23443022Free PMC Article
Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C
Mol Genet Metab 2012 Sep;107(1-2):229-33. Epub 2012 Jun 1 doi: 10.1016/j.ymgme.2012.05.020. PMID: 22749184Free PMC Article
Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA
Neurosciences (Riyadh) 2012 Jan;17(1):48-52. PMID: 22246010

Diagnosis

Elsayed LE, Mohammed IN, Hamed AA, Elseed MA, Johnson A, Mairey M, Mohamed HE, Idris MN, Salih MA, El-Sadig SM, Koko ME, Mohamed AY, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AK, Babai AM, Malik HM, Omer ZM, Mohamed EO, Eltahir HB, Magboul NA, Bushara EE, Elnour A, Rahim SM, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G
Eur J Hum Genet 2016 Jan;25(1):100-110. Epub 2016 Sep 7 doi: 10.1038/ejhg.2016.108. PMID: 27601211Free PMC Article
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH
Brain 2016 Jun;139(Pt 6):1723-34. Epub 2016 Mar 25 doi: 10.1093/brain/aww061. PMID: 27016404
Li YS, Mao CY, Shi CH, Song B, Wu J, Qin J, Ji Y, Niu HX, Luo HY, Shang DD, Sun SL, Xu YM
J Clin Neurosci 2015 Jul;22(7):1150-4. Epub 2015 May 21 doi: 10.1016/j.jocn.2015.01.014. PMID: 26003865
Garaci F, Toschi N, Lanzafame S, Meschini A, Bertini E, Simonetti G, Santorelli FM, Guerrisi M, Floris R
Int J Neurosci 2014 Apr;124(4):261-70. Epub 2013 Sep 27 doi: 10.3109/00207454.2013.836705. PMID: 23968121
Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C
Mol Genet Metab 2012 Sep;107(1-2):229-33. Epub 2012 Jun 1 doi: 10.1016/j.ymgme.2012.05.020. PMID: 22749184Free PMC Article

Therapy

Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C
Mol Genet Metab 2012 Sep;107(1-2):229-33. Epub 2012 Jun 1 doi: 10.1016/j.ymgme.2012.05.020. PMID: 22749184Free PMC Article

Prognosis

de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP
Eur J Hum Genet 2013 Nov;21(11):1312-5. Epub 2013 Feb 27 doi: 10.1038/ejhg.2013.27. PMID: 23443022Free PMC Article
Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA
Neurosciences (Riyadh) 2012 Jan;17(1):48-52. PMID: 22246010

Clinical prediction guides

Elsayed LE, Mohammed IN, Hamed AA, Elseed MA, Johnson A, Mairey M, Mohamed HE, Idris MN, Salih MA, El-Sadig SM, Koko ME, Mohamed AY, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AK, Babai AM, Malik HM, Omer ZM, Mohamed EO, Eltahir HB, Magboul NA, Bushara EE, Elnour A, Rahim SM, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G
Eur J Hum Genet 2016 Jan;25(1):100-110. Epub 2016 Sep 7 doi: 10.1038/ejhg.2016.108. PMID: 27601211Free PMC Article
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH
Brain 2016 Jun;139(Pt 6):1723-34. Epub 2016 Mar 25 doi: 10.1093/brain/aww061. PMID: 27016404
Garaci F, Toschi N, Lanzafame S, Meschini A, Bertini E, Simonetti G, Santorelli FM, Guerrisi M, Floris R
Int J Neurosci 2014 Apr;124(4):261-70. Epub 2013 Sep 27 doi: 10.3109/00207454.2013.836705. PMID: 23968121
Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA
Neurosciences (Riyadh) 2012 Jan;17(1):48-52. PMID: 22246010
Stromillo ML, Malandrini A, Dotti MT, Battaglini M, Borgogni F, Tessa A, Storti E, Denora PS, Santorelli FM, Gaudiano C, Battisti C, Federico A, De Stefano N
J Neurol 2011 Dec;258(12):2240-7. Epub 2011 May 29 doi: 10.1007/s00415-011-6106-x. PMID: 21625935

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