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Autosomal Dominant Spastic Paraplegia Type 10

Autosomal Dominant Spastic Paraplegia 10


  • Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 10 Disease definition Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a[orpha.net]
  • Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease[books.google.com]
  • Patients with HSP due to SPG3A mutations classically present first symptoms younger.[journals.lww.com]
Cape Verde
  • Cape Verde : Boa Vista Cape Verde, Sal, etc. Caribbean Netherlands :, etc. Cayman Islands : George Town, Grand Cayman, West Bay, etc. Central African Republic : Bangui, etc. Chad : N'Djamena, etc.[maria-online.com]
Onset in Adolescence
  • ORPHA:100991 Synonym(s): SPG10 Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 604187 UMLS: C1858712 MeSH: C537482 GARD: 9590 MedDRA: - The documents contained in this web site are presented for[orpha.net]
  • Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 10 Disease definition A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia[orpha.net]
  • Orpha Number: 100991 Disease definition A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence[rarediseases.info.nih.gov]
Lower Extremity Spasticity
  • Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease.[icd9data.com]
  • Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation.[medicbind.com]
  • extremity spasticity and weakness.[flybase.org]
  • Clinical Features  Symptoms depend on the type of HSP inherited  Main feature progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles[slideshare.net]
Spastic Gait
  • Spastic gait was absent in 9%, mild in 27%, and moderate or severe in 32%.[jamanetwork.com]
  • Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet[rarediseases.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]
  • gait Spastic walk 0002064 Spastic paraplegia 0001258 Urinary bladder sphincter dysfunction 0002839 Urinary incontinence Loss of bladder control 0000020 Showing of 38 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be[rarediseases.info.nih.gov]
Babinski Sign
  • sign 0003487 Distal sensory impairment Decreased sensation in extremities 0002936 Hyperreflexia in upper limbs 0007350 Impaired distal vibration sensation 0006886 Leg muscle stiffness 0008969 Lower limb muscle weakness Lower extremity weakness Lower[rarediseases.info.nih.gov]
  • Lupski, The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy, Genetics in Medicine, 10.1038/gim.2015.124, 18, 5, (443-451), (2015).[doi.org]
  • Conclusion: We present the clinical and genetic analysis of an American family with autosomal dominant HSP with axonal sensory motor polyneuropathy mapping to a novel locus on chromosome 21q22.3 designated SPG56.[tandfonline.com]
  • Complicated: polyneuropathy and optic atrophy. SPG56 CYP2U1 4q.25 CYP2U1 Early onset, spasticity of four limbs, polyneuropathy. SPOAN Gene unknown 11q13 Gene unknown Early onset, spastic paraplegia, optic atrophy and axonal neuropathy.[scielo.br]
  • A complicated form of SPG6, with additional symptoms such as polyneuropathy or epilepsy, was described in only a few families [ 32 , 33 ].[omicsonline.org]
  • Other Alcoholic polyneuropathy v t e Cerebral palsy and other syndromes ( G80–G83 , 342–344 ) Paresis and plegia NOS Paralysis Quadriplegia Triplegia Hemiplegia / Hemiparesis Paraplegia / Diplegia Monoplegia Flaccidity vs. spasticity Upper motor neuron[maria-online.com]


  • While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs.[scielo.br]
Skin Biopsy Abnormal
  • Seze, Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality, European Journal of Neurology, 20, 2, (398-401), (2012).[doi.org]


  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Gilbert directs or participates in a number of single and multi-center studies into causes and treatments of Tourette's syndrome. Dr.[books.google.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Gene therapy may not work against all types of genetic disease, and it remains to be seen if any of the HSPs are candidates for this type of treatment.[medschool.lsuhsc.edu]


  • 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]
  • Prognosis This varies widely, but most often HSP is compatible with a normal life expectancy. The rate of progression varies considerably and is influenced by the mode of inheritance.[encyclopedia.com]
  • […] ataxia(1), 劣性遺伝(1), 統合脳・病態脳(55) 研究分野 内科系臨床医学 / 神経内科学 / 神経科学 / 神経科学一般 / 経歴 テキストで表示 1 2 3 2004年 - 2009年 新潟大学 脳研究所 教授 2003年 - 2004年 新潟大学 医学部 教授 2000年 国際医療福祉大学 教授 1999年 国際医療福祉大学 保健学部 教授 1998年 自治医科大学 医学部・神経内科 助教授 論文 テキストで表示 1 2 3 4 [Clinical features of poor-prognosis[researchmap.jp]


  • 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]
  • CONCLUSIONS: To our knowledge, this is the first report describing SPG10-HSP outside Europe, which suggests KIF5A mutation is a shared genetic etiology for HSP over ethnicities.[neurology.org]
  • Tijana Copf, Impairments in dendrite morphogenesis as etiology for neurodevelopmental disorders and implications for therapeutic treatments, Neuroscience & Biobehavioral Reviews, 10.1016/j.neubiorev.2016.04.008, 68, (946-978), (2016).[doi.org]
  • The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.[uniprot.org]
  • 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]


  • Meta-Analysis of Observational Studies in Epidemiology (MOOSE) group. JAMA 2000;283:2008-2012.[karger.com]
  • II: Epidemiology. I Krägeloh-Mann , G Hagberg , 6 authors R Michaelis Developmental medicine and child neurology 1994 Dopa-responsive dystonia simulating cerebral palsy.[semanticscholar.org]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
Sex distribution
Age distribution


  • His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models.[books.google.com]
  • Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35.[scielo.br]
  • 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 results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family.[bmcneurol.biomedcentral.com]
  • POLR3A 10q22.3 Autosomal recessive Hereditary spastic paraplegia: Pathophysiology The major feature of HSP is a length dependent axonal degeneration. These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis .[maria-online.com]


  • (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 3-5 weeks price : 2,090.00 Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel method(s): Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical[genetests.org]
  • 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]
  • Treatment 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 26. Gen. Spas ticity Oral Agents Foc.[slideshare.net]
  • For patients with walking (gait) problems, canes, walkers, and wheelchairs will facilitate mobility and help to prevent falling and subsequent injury. A number of drugs are available to reduce some of the symptoms of HSP.[medschool.lsuhsc.edu]

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