Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3. Schneider SA, Walker RH, Bhatia KP. [books.google.com]

HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]

Nystagmus, truncal ataxia and incordination of movements were present. Fundus examination showed bilateral optic atrophy. [ijmr.org.in]

Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings. [jnnp.bmj.com]

Asymptomatic patients are also present. [emedicine.medscape.com]

• Disability

  ", keywords "Autosomal recessive, Disabled children, Hereditary, Oman, Spastic paraplegia", author "Roshan Koul and Al-Murshedi, {Fathiya M.} and Al-Azri, {Faisal M.} and Ranjit Mani and Abdelrahim, {Rana A.} and Vivek Koul and Alfutaisi, {Amna M. [squ.pure.elsevier.com]

  LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. [abcam.com]

  Some cases are seriously disabling while others are less disabling and are compatible with a productive and full life. [en.wikipedia.org]

  Individuals with complicated HSP exhibit additional neurologic features such as intellectual disability, seizures, ataxia, peripheral neuropathy, deafness, cataracts, retinal degeneration, or muscle atrophy, depending on which gene is causative. [invitae.com]

  LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. Belongs to the connexin family. [mybiosource.com]

• Movement Disorder

  She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London. [books.google.com]

  Movement Disord 2016; 31: S227-S. [hih-tuebingen.de]

  Movement Disorders 32: 332–345. Tallaksen CM, Dürr A and Brice A (2001) Recent advances in hereditary spastic paraplegia. Current Opinion in Neurology 14: 457–463. [els.net]

  […] mutations are frequent in young-onset autosomal dominant spastic paraplegia Arch Neurol, 61 (12), 1867-72 DOI 10.1001/archneur.61.12.1867, PubMed 15596607 Tallaksen CM, Dietrichs E (2004) [The genetics of movement disorders--spinocerebellar degenerations [ous-research.no]

  Movement Disorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC. [en.wikipedia.org]

• Lymphedema

  Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. LMPH1C is a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. [abcam.com]

  Patients with lymphedema suffer from recurrent local infections and physical impairment. Belongs to the connexin family. Gamma-type subfamily. [mybiosource.com]

  Patients with lymphedema suffer from recurrent local infections and physical impairment. [uniprot.org]

  Defects in this protein are the cause of leukodystrophy, hypomyelinating, 2 (HLD2), lymphedema, hereditary, 1C (LMPH1C), and spastic paraplegia 44, autosomal recessive (SPG44). [cags.org.ae]

  P41250 pleiotropic Charcot-Marie-Tooth disease 2D (CMT2D) [MIM: 601472 ] Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM: 600794 ] GATA2 P23769 pleiotropic Immunodeficiency 21 (IMD21) [MIM: 614172 ] Myelodysplastic syndrome (MDS) [MIM: 614286 ] Lymphedema [sbg.bio.ic.ac.uk]

• Vascular Disease

  Thus, a careful medical history and clinical examination are necessary to exclude all other conditions that may cause similar symptoms, which include ALS, multiple sclerosis, collagen vascular diseases, depression, hypothyroidism, myasthenia gravis, inclusion [emedicine.medscape.com]

• Muscle Spasticity

  Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.com]

• Suggestibility

  Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

  […] below. 9 Further subdivision of pure HSP was also suggested by Harding based on the age of onset of the disease. [jnnp.bmj.com]

  Normal results of muscle histochemical and biochemical analysis suggest that mitochondrial disturbance, a feature of chromosome 16-linked autosomal recessive HSP due to paraplegin gene mutations, is not a feature of chromosome 8q-linked autosomal dominant [neurology.org]

  They are stained light red by methyl green-pyronin, which suggests that they have an RNA component. [emedicine.medscape.com]

  Nevertheless, in all our patients, there was a relationship between the location and severity of white matter changes and the atrophy of the corpus callosum, suggestive of an atrophic process of the corpus callosum. [ajnr.org]

• Incontinence

  During follow-up, 94% developed sphincter problems, manifesting as urinary as well as fecal incontinence in 44%. Obesity was seen in 14 patients in total (78%), of whom 9 were non-ambulatory. [nature.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. [abcam.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. [genecards.org]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C). [mybiosource.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [uniprot.org]

• Spastic Paraplegia

  Spastic paraplegia type 44, AR (SPG44, sequence analysis of GJC2 gene) This is a clinical test intended for Help Purposes or indications for the test. Lab-provided. : Diagnosis 1 condition tested. Click Indication tab for more information. [ncbi.nlm.nih.gov]

  Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

  Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. [ghr.nlm.nih.gov]

  Hereditary spastic paraplegia Bibliography Baraitser M. ; Motulsky AG, Bobrow M, Harper PS, Scriver C, editors.The Genetics of Neurological Disorders. 2nd ed. New York: Oxford University Press, 1990; 15, Spastic paraplegia/HSP. p. 275-90. [med.umich.edu]

  Fink JK: Hereditary spastic paraplegia. In Neurogenetics. Edited by Lynch DR, Farmer JM. Philadelphia: WB Saunders; 2002:711–726. Google Scholar 102. Fink JK: Hereditary spastic paraplegia. [link.springer.com]

• Dystonia

  She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.com]

  Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM: 612718 ] GBA2 Q9HCG7 non-pleiotropic Spastic paraplegia 46, autosomal recessive (SPG46) [MIM: 614409 ] GCDH Q92947 non-pleiotropic Glutaric aciduria 1 (GA1) [MIM: 231670 ] GCH1 P30793 pleiotropic Dystonia [sbg.bio.ic.ac.uk]

  Edvardson S, Hama H, Shaag A, et al. (2008) Mutations in the fatty acid 2‐hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. American Journal of Human Genetics 83: 643–648. [els.net]

  […] frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases J Med Genet, 43 (3), 259-65 DOI 10.1136/jmg.2005.035311, PubMed 16055926 Dietrichs E, Tallaksen CM (2004) [Genetics in movement disorders--dystonia [ous-research.no]

  Fink JK, Filling-Katz M, Barton NW, et al.: Treatable dystonia presenting as spastic cerebral palsy. Pediatrics 1988, 82 :138. Google Scholar 70. [link.springer.com]

• Dysarthria

  HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity. [abcam.com]

  Dysarthria and bladder dysfunction are often present. Cerebellar ataxia is common and some patients first present with this as a prominent sign in the first and second decades. [disorders.eyes.arizona.edu]

  Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [uniprot.org]

  66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [jnnp.bmj.com]

• Hyperreflexia

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [ghr.nlm.nih.gov]

  The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present. [disorders.eyes.arizona.edu]

  Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

  Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

  Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

• Nystagmus

  Nystagmus, truncal ataxia and incordination of movements were present. Fundus examination showed bilateral optic atrophy. [ijmr.org.in]

  Optic atrophy and nystagmus have not been reported. Systemic Features: Stiffness and weakness of the lower limbs begins between 2 and 20 years of age. [disorders.eyes.arizona.edu]

  HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity. [abcam.com]

  Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [uniprot.org]

Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]

Treatment Treatment Options: No effective treatment is known for the neurological deficits but cataract surgery may be beneficial for visually significant cataracts. [disorders.eyes.arizona.edu]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

Marelli C, Lamari F, Rainteau D, et al. (2018) Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5. Brain 141: 72–84. [els.net]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]

Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. [nature.com]

Prognosis Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [ipfs.io]

Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]

This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS. [emedicine.medscape.com]

Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture. [jnnp.bmj.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. [oxfordmedicine.com]

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.com]

Keppen L, Leppert M, O'Connell P (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933-43. Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet 7:351-2. [med.umich.edu]

Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. [ajnr.org]

Consequently, they are often approached together in epidemiological studies. [karger.com]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 [ipfs.io]

Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Frenkian Cuvelier M, Stojkovic T, DeBaets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A, Szczudlik P et al. (2013) A comprehensive analysis of the epidemiology [ous-research.no]

Epidemiology The prevalence of HSP varies in different studies. Such variation is probably due to a combination of differing diagnostic criteria, variable epidemiological methodology, and geographical factors. [jnnp.bmj.com]

Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis. [en.wikipedia.org]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.com]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. [karger.com]

Bjorkhem, Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One, 2013. 8(7): p. e68031. Martin, E.*, R. Schule*, K. Smets*, A. Rastetter, A. Boukhris, J.L. Loureiro, M.A. [hih-tuebingen.de]