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Hereditary spastic paraplegia 11(SPG11)

MedGen UID:
388073
Concept ID:
C1858479
Disease or Syndrome
Synonyms: Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum; Hereditary spastic paraplegia mental impairment and thin corpus callosum; Nakamura Osame syndrome; Spastic paraplegia 11; Spastic paraplegia 11, autosomal recessive; Spastic paraplegia, mental retardation and thin corpus callosum; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum
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).
 
Gene (location): SPG11 (15q21.1)
 
Monarch Initiative: MONDO:0011445
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 with characteristic brain MRI features that include thinning of the corpus callosum. Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. Most affected individuals become wheelchair bound one or two decades after disease onset. [from GeneReviews]
Authors:
Giovanni Stevanin   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 MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-11

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Abnormal function of a sphincter of the urinary bladder.
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
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).
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Weakness of the muscles of the legs.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
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.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Corpus callosum, agenesis of
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
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.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Motor polyneuropathy
MedGen UID:
82885
Concept ID:
C0271683
Disease or Syndrome
Inflammation or degeneration of the peripheral motor nerves.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Tip-toe gait
MedGen UID:
98104
Concept ID:
C0427144
Finding
An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Knee clonus
MedGen UID:
488908
Concept ID:
C0520823
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.
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
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Hyperreflexia in upper limbs
MedGen UID:
375112
Concept ID:
C1843175
Finding
Degeneration of the lateral corticospinal tracts
MedGen UID:
375921
Concept ID:
C1846566
Finding
Deterioration of the tissues of the lateral corticospinal tracts.
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
A decrease in the ability to perceive vibration in the legs.
Impaired distal vibration sensation
MedGen UID:
381262
Concept ID:
C1853767
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
Concept ID:
C1858285
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Abnormal periventricular white matter morphology
MedGen UID:
435926
Concept ID:
C2673431
Finding
A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Distal peripheral sensory neuropathy
MedGen UID:
867224
Concept ID:
C4021582
Disease or Syndrome
Peripheral sensory neuropathy affecting primarily distal sensation.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Thenar muscle atrophy
MedGen UID:
355274
Concept ID:
C1864715
Finding
Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
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.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary spastic paraplegia 11
Follow this link to review classifications for Hereditary spastic paraplegia 11 in Orphanet.

Professional guidelines

PubMed

Wali G, Berkovsky S, Whiten DR, Mackay-Sim A, Sue CM
Sci Rep 2021 Aug 17;11(1):16635. doi: 10.1038/s41598-021-95995-4. PMID: 34404843Free PMC Article
Sprute R, Jergas H, Ölmez A, Alawbathani S, Karasoy H, Dafsari HS, Becker K, Daimagüler HS, Nürnberg P, Muntoni F, Topaloglu H, Uyanik G, Cirak S
Am J Med Genet A 2021 Feb;185(2):344-354. Epub 2020 Nov 5 doi: 10.1002/ajmg.a.61951. PMID: 33155358
Riccardo M, Angela L, Angela D, Vita P, Giulio L, Pietroq F, Giancarlo I, Marisa M
Curr Pharm Des 2016;22(6):758-63. doi: 10.2174/1381612822666151204001830. PMID: 26648460

Recent clinical studies

Etiology

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
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Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
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: 33478946Free PMC Article
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
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751

Diagnosis

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Neuron 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. PMID: 29566793Free PMC Article
Wijemanne S, Jankovic J
Nat Rev Neurol 2015 Jul;11(7):414-24. Epub 2015 Jun 23 doi: 10.1038/nrneurol.2015.86. PMID: 26100751
França MC Jr, D'Abreu A, Maurer-Morelli CV, Seccolin R, Appenzeller S, Alessio A, Damasceno BP, Nucci A, Cendes F, Lopes-Cendes I
Mov Disord 2007 Aug 15;22(11):1556-62. doi: 10.1002/mds.21480. PMID: 17516453

Therapy

Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
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Curr Pharm Des 2016;22(6):758-63. doi: 10.2174/1381612822666151204001830. PMID: 26648460
Dressler D, Berweck S, Chatzikalfas A, Ebke M, Frank B, Hesse S, Huber M, Krauss JK, Mücke KH, Nolte A, Oelmann HD, Schönle PW, Schmutzler M, Pickenbrock H, Van der Ven C, Veelken N, Vogel M, Vogt T, Saberi FA
J Neural Transm (Vienna) 2015 Nov;122(11):1573-9. Epub 2015 Jul 16 doi: 10.1007/s00702-015-1425-1. PMID: 26179478
Wijemanne S, Jankovic J
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Prognosis

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
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Xing F, Du J
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Rosello M, Caro-Llopis A, Orellana C, Oltra S, Alemany-Albert M, Marco-Hernandez AV, Monfort S, Pedrola L, Martinez F, Tomás M
Pediatr Res 2021 Aug;90(2):284-288. Epub 2020 Nov 11 doi: 10.1038/s41390-020-01250-3. PMID: 33177673
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Polo JM, Calleja J, Combarros O, Berciano J
Brain 1991 Apr;114 ( Pt 2):855-66. doi: 10.1093/brain/114.2.855. PMID: 2043954

Clinical prediction guides

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