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Pure Hereditary Spastic Paraplegia

Pure Familial Spastic Paraplegia


  • Abstract X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated.[ncbi.nlm.nih.gov]
  • Hedera et al. 3 present clinical features of a large chromosome 8q23-24–linked autosomal dominant HSP kindred, and Murillo et al. 4 report linkage to a third locus—15q13-q15—for autosomal recessive HSP.[neurology.org]
  • Appleton RE, Farrell K, Dunn HG (1991) ‘Pure’ and ‘complicated’ forms of hereditary spastic paraplegia presenting in childhood. Dev Med Child Neurol 33:304–312 CrossRef PubMed Google Scholar 7.[link.springer.com]
  • We report on an Italian family affected by ADPHSP for which we excluded linkage with the known loci and performed a genome-wide search.[ncbi.nlm.nih.gov]
  • Neurol Sci Off J Italian Neurol Soc Italian Soc Clin Neurophysiol Google Scholar 21.[link.springer.com]
  • Neurol Sci Off J Italian Neurol Soc Italian Soc Clin Neurophysiol 21.[springermedizin.de]
  • Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 2002; 59(9):1395-1401. 27. Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC.[siicsalud.com]
Muscle Spasticity
  • Treatment is mainly supportive, with skeletal muscle relaxants, botulinum toxin, and physiotherapy for muscle spasticity. HSP may be nonprogressive ( childhood-onset ) or progressive ( adult-onset ).[amboss.com]
  • Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis. Gait Posture 2013; 38: 304–309. 23. Peretz C, Herman T, Hausdorff JM, Giladi N.[medicaljournals.se]
  • Bohannon RW, Smith MB: Interrater reliability of a modified Ashworth scale of muscle spasticity. Phys Ther 1987;67:206–207.[karger.com]
  • One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction.[rarediseases.org]
  • In the clinical examination, the severity of the spasticity was assessed using a modified Ashworth scale of muscle spasticity (ASH) (8); the ASH was calculated as the mean value of spasticity in both the lower limbs.[functionalneurology.com]
Long Arm
  • Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19.[ncbi.nlm.nih.gov]
  • The boy on whom prenatal gene diagnosis was performed is healthy and without unusual facies, suggesting that the c.1204T G mutation might be related to these features.[ncbi.nlm.nih.gov]
  • […] below. 9 Further subdivision of pure HSP was also suggested by Harding based on the age of onset of the disease.[jnnp.bmj.com]
Spastic Paraplegia
  • KEYWORDS: 3q28–q29; Autosomal recessive; Hereditary spastic paraplegia; Microarray; Neurodegenerative disorder; Run of homozygosity; SPG14[ncbi.nlm.nih.gov]
Lower Extremity Spasticity
  • BACKGROUND: hereditary spastic paraplegias (HSP) are a group of neurodegenerative disorders characterized by progressive lower extremity spastic weakness.[ncbi.nlm.nih.gov]
  • Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons.[uniprot.org]
  • Classification of hereditary spastic paraplegias The chromosome 8q–linked 5 autosomal dominant HSP kindred described in Hedera et al. includes 15 affected subjects (8 men and 7 women) whose symptoms include lower extremity spasticity and weakness, hyperreflexia[neurology.org]
  • Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.[asperbio.com]
  • Lower extremity spasticity is often reported to be worse in cold weather, following exertion, and at the end of the day.[now.aapmr.org]


  • High-arched feet (pescavus) are generally present and are usually prominent in older patients. workup Genetic Testing 43. Imaging Studies MRI scans may demonstrate atrophy of the spinal cord.[slideshare.net]


  • Treatment of chronic limb spasticity with botulinum toxin A. J Neurol Neurosurg Psychiatry 1995; 58: 232–235. 13. Giovannelli M, Borriello G, Castri P, Prosperini L, Pozzilli C.[medicaljournals.se]
  • A multidisciplinary treatment regime is used to manage symptoms. There are three main treatment types: physiotherapy/exercise, electrical muscle stimulation and prescription medication.[contact.org.uk]
  • As new HSP therapies emerge, genetic advancement may further contribute to improved outcomes by allowing clinicians to better personalize treatment , tailoring therapy to the individual genetic profile of each patient. 1 Diagnosing Hereditary Spastic[raredr.com]
  • REHABILITATION MANAGEMENT AND TREATMENTS Available or current treatment guidelines There is no available treatment to slow or reverse the disease process.[now.aapmr.org]


  • Determining the molecular basis of disease using genetic testing can be useful in predicting prognosis and disease course, and can aid in identification of at-risk family members.[dnatesting.uchicago.edu]
  • Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions.[rarediseases.org]
  • 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]
  • Professional Issues The limitations in the ability to predict prognosis and variability in disease onset and progression should be kept in mind when providing counseling to patients and families with HSP. 3.[now.aapmr.org]


  • Hereditary Spastic Paraplegia Etiology HSP is a highly genetically heterogeneous group of disorders (4). 70-80% of HSP is inherited in an autosomal dominant manner, and the majority of dominant HSP is classified as uncomplicated or pure HSP (2).[dnatesting.uchicago.edu]
  • Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such[amboss.com]
  • Progressive multiple sclerosis MS is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system of unknown etiology. Peak age of onset in Primary progressive MS is around 40 years.[explainmedicine.com]
  • […] associated with immediate pain relief, improved quality of sleep and improved mobility. 1 At this point, the preponderance of clinical research related to HSP remains early-stage, focused on gaining a deeper understanding of the disease process and its etiology[raredr.com]
  • Etiology The genetics of HSP are complex and heterogeneous. Over fifty spastic paraplegia gene (SPG) genetic loci have been identified to date. The mode of inheritance for HSP can be autosomal dominant, recessive, or X-linked.[now.aapmr.org]


  • Recessive Epidemiology: Most Caucasian; 10 patients Clinical Onset age: 8 months to 7 years Extrapyramidal Dystonia Rigidity Choreoathetosis Cerebellum: Ataxia; Nystagmus Spasticity Mental development Poor speech Mental deficiency: Mild to Severe Other[neuromuscular.wustl.edu]
  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses . J. Hum. Genet. 59 , 163–172 (2014). 17. Beetz, C. , Nygren, A.[nature.com]
  • Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol. 1993 ; 10 : 17 – 25. 27. Hara, K, Onodera, O, Endo, M, Kondo, H, Shiota, H, Miki, K, et al.[cambridge.org]
  • Epidemiology including risk factors and primary prevention The prevalence of HSP is estimated to be at 3 to 10 cases per 100,000. The onset of the disease process begins anywhere from early childhood to 70 years of age.[now.aapmr.org]
Sex distribution
Age distribution


  • Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such[amboss.com]
  • See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively[mayomedicallaboratories.com]
  • PATHOPHYSIOLOGY 6. Impaired cellular membrane trafficking 7. More particularly axonal transport of macromolecules and organelles. 8. Mutation of proteins, spastin and atlastin-1 causes impaired cellular membrane trafficking.[slideshare.net]
  • A role for white matter abnormalities in the pathophysiology of bipolar disorder. Neurosci Biobehav Rev 2010;34:533-54. [ PUBMED ] [ FULLTEXT ] 14. Mazza M, Di Nicola M, Marca GD, Janiri L, Bria P, Mazza S.[ruralneuropractice.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]


  • Author information 1 Institute of Cardiovascular Disease, General Hospital of Jinan Military Region, 8 Lashan Road, Jinan 250022, China. 2 Division of Quality Management, Shandong Center for Disease Control and Prevention, 16992 Jingshi Road, Jinan 250014[ncbi.nlm.nih.gov]
  • Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier.[nhs.uk]
  • CARIS helps scientists identify more effective ways of treating and preventing rare conditions, such as ichthyosis. You can opt out of the register at any time.[nhsdirect.wales.nhs.uk]
  • A regularly followed exercise regimen should incorporate daily or twice daily stretching and daily exercises to promote improved endurance and activity tolerance and to prevent deconditioning.[now.aapmr.org]
  • TREATMENT Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP.[slideshare.net]

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