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]

RESULTS Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. [jnnp.bmj.com]

Hypertrophic cardiomyopathy and diabetes are common presentations of the condition. [elsevier.es]

Vision: Continuum: Lifelong Learning in Neurology will present the highest quality in-depth information on topics in neurology and be the premier continuing medical education publication for neurology professionals. [aan.com]

Pure HSP presents with spasticity in the lower limbs, associated with neurogenic bladder disturbance as well as lack of vibration sensitivity ( pallhypesthesia ). [en.wikipedia.org]

• Pathologist

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Hypertension

  ( Hydrocephalus / NPH, Idiopathic intracranial hypertension ) · Cerebral edema · Intracranial hypotension Other Brain herniation · Reye's · Hepatic encephalopathy · Toxic encephalopathy Spinal cord / myelopathy Syringomyelia · Syringobulbia · Morvan's [psychology.wikia.com]

• Dysarthria

  YouTube November 12, 2014 Fatty acid 2-hydroxylase deficiency ...A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus since 7 years of age. Brain MRI disclosed white matter changes and iron accumulation. [aan.com]

  […] 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 [ghr.nlm.nih.gov]

  […] this study two families are described with clinical features of Kjellin’s syndrome but with several distinguishing points: the age of onset for spastic paraplegia was earlier and they had additional clinical features including sphincter disturbances, dysarthria [jnnp.bmj.com]

  Mutations in VAMP1 gene are causing spastic ataxia 1 (SPAX1), a rare neurodegenerative disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysphagia, dysarthria, and gait disturbance 19. [centogene.com]

  Additional features including ataxia (gait and limbs), spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, ptosis, hearing loss, motor and sensory neuropathy, amyotrophy, scoliosis, pes cavus, and urinary sphincter disturbances [ncbi.nlm.nih.gov]

• Tremor

  Although he reached out for objects in front and to the side of him without any tremor he was unable to lift his arms above his head. [jnnp.bmj.com]

  ( Essential tremor, Intention tremor ) · Restless legs · Stiff person Dementia Tauopathy : Alzheimer's ( Early-onset ) Primary progressive aphasia · Frontotemporal dementia / Frontotemporal lobar degeneration ( Pick's, Dementia with Lewy bodies ) Multi-infarct [psychology.wikia.com]

  […] syndrome does occur, although it is more common for patients also to present symptoms secondary to the involvement of other systems, such as intellectual disability, cognitive impairment, epilepsy, movement disorders (dystonia, chorea, parkinsonism, tremor [elsevier.es]

  DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT ATROFIA SPINODENTATA ATASSIA PERIODICA ATASSIA VESTIBULOCEREBELLARE MARINESCO-SJÖGREN, SINDROME DI ATASSIA FRIEDREICH-LIKE DEFICIENZA FAMILIARE DI VITAMINA E ATASSIA-TELEANGECTASIA LOUIS-BAR, SINDROME DI SINDROME CON TREMORE [retemalattierare.it]

  […] extensor plantar responses, and mildly impaired vibration sensation in the distal legs A complicated phenotype of spastic paraplegia including optic neuropathy, progressive external ophthalmoplegia/ptosis slowed speech, swallowing difficulties, palatal tremor [ncbi.nlm.nih.gov]

• Cerebellar Sign

  Spastic paraparesis, and extrapyramidal and cerebellar signs may occur late in this condition. [jnnp.bmj.com]

  Other signs and symptoms can be observed [ Brugman et al 2008, Salinas et al 2008, Warnecke et al 2010, Almontashiri et al 2014, Pfeffer et al 2014 ] including the following: Cerebellar and motor signs Ataxia (gait and limbs) Spastic dysarthria Dysphagia [ncbi.nlm.nih.gov]

  On the other hand, HSP is classified as complex or complicated when associated with other neurological signs, including ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction or epilepsy, or with extraneurological signs. [psychology.wikia.com]

• Insomnia

  Headache Migraine ( Familial hemiplegic ) · Cluster · Tension Cerebrovascular TIA ( Amaurosis fugax, Transient global amnesia Acute aphasia ) Stroke ( MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke ) Sleep disorders Insomnia [psychology.wikia.com]

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]

There is no specific treatment for AT. [elsevier.es]

Stephens about causes, symptoms, and treatments for hereditary spastic paraplegia (HSP), a rare genetic disorder. Read the article in the December 2014/January 2015 issue of Neurology Now, featuring FOX meteorologist... [aan.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]

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]

Prognosis Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]

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

Risch N et. al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [^] 26. [moldiag.com]

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

Jorde LB et. al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [^] 6. [moldiag.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]

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [elsevier.es]

The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5 [en.wikipedia.org]

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]

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]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]

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]

The MicroRNA-224 inhibitor prevents neuronal apoptosis via targeting spastic paraplegia 7 after cerebral ischemia. J Mol Neurosci. 2016; 59 :421–9. [ PubMed : 27165196 ] Hourani R, El-Hajj T, Barada WH, Hourani M, Yamout BI. [ncbi.nlm.nih.gov]