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Autosomal Recessive Spastic Paraplegia Type 25

Autosomal Recessive Spastic Paraplegia 25


Presentation

  • Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models Emphasizes the use of DNA tests for each respective disorder[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]
  • In severe form of Cervical Myelopathy causes muscle weakness in all 4 limbs with sensory disturbances.Pathological reflexes are also present. Hoffmann's sign and Babinski's sign also can be seen.[explainmedicine.com]
  • The risk of an individual inheriting the abnormal gene depends on the mode of transmission and whether the mutated gene is present on a sex chromosome or an autosome.[encyclopedia.com]
  • The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister.[epilepsygenetics.net]
Splenomegaly
  • Patients often have a history of splenomegaly and prolonged neonatal jaundice. MRI scans reveal brain, cerebellar, and brainstem atrophy ( Fig. 2 C).[elsevier.es]
Movement Disorder
  • Describing the current knowledge on these disorders, Genetics of Movement Disorders brings together information essential for clinicians, geneticists, and neuroscientists in one source.[books.google.com]
  • Worldwide Education & Awareness for Movement Disorders (WE MOVE). 204 West 84th Street, New York, NY 10024. (April 4, 2005.). OTHER Association Strumpell-Lorrain. 7 D rue des Granges, Besancon, Intl 25000, France. (038) 150 2391. (April 4, 2005.).[encyclopedia.com]
  • Movement Disorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC.[en.wikipedia.org]
  • Complex hyperkinetic movement disorders associated with POLG mutations. M. Synofzik, R. Schüle, C. Schulte, R. Krüger, T. Lindig, L. Schöls, F. Asmus, Mov Disord. 2010 Oct 30;25(14):2472-5.[dzne.de]
  • Pure cerebellar 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,[elsevier.es]
Amyloidosis
  • Familial transthyretin amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis.[centogene.com]
  • Erythrokeratodermie GJB4, LOR Erythromelalgie SCN9A Escobar syndrome, Multiple pterygium syndrome, lethal type CHRNG Exudative vitreoretinopathy FZD4, NDP, TSPAN12 Facio-scapulo-humerale Dystrophie FSHD Factor XIII deficiency F13A1, F13B Familial Transthyretin Amyloidosis[meduniwien.ac.at]
  • Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S American journal of human genetics 91(2) 320-329 2012年8月 [査読有り] Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis[researchmap.jp]
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]
Gaucher Disease
Muscle Spasticity
  • 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]
  • 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]
Spastic Paraplegia
  • Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases.[books.google.com]
  • 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]
  • Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 16, X-Linked Spastic Paraplegia[familydiagnosis.com]
  • AD/AR 6 7 SPAST Spastic paraplegia AD 193 723 SPG11 Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease AR 162 274 SPG20 Spastic paraplegia (Troyer syndrome) AR 9 7 SPG7 Spastic paraplegia AR 69 111 SPR Dystonia, Dopa-responsive[blueprintgenetics.com]
  • Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 ; 7 : 1127 - 1138. 2. Fink, JK. Hereditary spastic paraplegia overview. In: Pagon RA, Adam MP, Ardinger HH, et al ., editors. GeneReviews.[cambridge.org]
Ataxia
  • […] and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia[books.google.com]
  • Keywords: Recessive ataxia Friedreich ataxia Ataxia-telangiectasia Refsum disease Wilson disease Niemann-Pick disease type C Resumen Introducción Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo[elsevier.es]
  • ) Anuria (Urinary urgency) Ataxia, spastic, type 3, autosomal recessive (Urinary urgency) Ataxia (urinary urgency) Autosomal dominant inheritance ... ...[familydiagnosis.com]
  • Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia.[karger.com]
  • J Neurol Sci 239(1): 101-104 2005年 下肢の多発性単神経根症で発症した髄膜癌腫症の1剖検例 臨床神経学 45(1): 32-37 2005年 A phenotype without spasticity in sacsin-related ataxia.[kyouingyousekidb.jichi.ac.jp]
Cerebellar Ataxia
  • Palau F, Espinós C: Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006;1:47. le Ber I, Brice A, Dürr A: New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep 2005;5: 411-417.[karger.com]
  • Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology, 56 (2001), pp. 849-855 [35] M.C. Moreira, S. Klur, M. Watanabe, A.H. Nemeth, I. le Ber, J.C. Moniz, et al.[elsevier.es]
  • cerebellar ataxia with neuropathy SHIMAZAKI Haruo American Society of Human Genetics 2013 Annual Meeting 2013年10月24日 Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy SHIMAZAKI Haruo American Academy of[kyouingyousekidb.jichi.ac.jp]
  • HSP due to LYST mutation We encountered an autosomal-recessive (AR) HSP family with cerebellar ataxia and neuropathy whose gene locus was not linked to previously reported AR-HSP loci.[intechopen.com]
  • Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.[ncbi.nlm.nih.gov]
Chorea
  • […] convenient and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea[books.google.com]
  • It is the commonest genetic cause of chorea. It is dominantly inherited. And the mean age of onset is about 40.[hstalks.com]
  • […] gyration and polymicrogyria (BLCPMG) OCLN Baraitser-Winter syndrome ACTB, ACTG1 Bardet-Biedl Syndrom BBS1, BBS2, BBS10 Barth syndrome TAZ Bartter Syndrom CLCNKA, CLCNKB, BSND, KCNJ1, SLC12A1, CASR Beckwith-Wiedemann- Syndrom ME030-C3 benigne hereditäre Chorea[meduniwien.ac.at]
  • Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord, 11 (1996), pp. 217-220 [28] D. Sharp, L. Blinderman, K.A. Combs, B. Kienzle, B. Ricci, K. Wager-Smith, et al.[elsevier.es]
  • […] on the editorial boards of the Canadian Journal of Neurological Sciences and Nature Reviews Neurology ; has received publishing royalties from UpToDate for chapters on Diagnosis of Huntington Disease, Treatment of Huntington Disease, and Diagnosis of Chorea[ng.neurology.org]
Involuntary Movements
  • Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and many areas of basic and applied neuroscience research.[books.google.com]

Workup

  • 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

  • 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]
  • 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]
  • Treatment There is no curable or preventive treatment for HSP. Symptomatic treatment for muscle spasm and spasticity includes oral medications like baclofen, tizanidine, and benzodiazepines like valium.[encyclopedia.com]
  • Standard Therapies Treatment: management of symptoms Despite encouraging progress in many research laboratories (see reference 7 for example), treatment for HSP is presently limited to reducing symptoms of muscle weakness, spasticity, and urinary urgency[rarediseases.org]
  • 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]

Prognosis

  • 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: 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 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]
  • Identification of the specific mutation concerned is essential to establishing a prognosis and providing satisfactory treatment and proper genetic counselling.[elsevier.es]
  • […] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis[ng.neurology.org]

Etiology

  • 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]
  • 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]
  • MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues.[journals.plos.org]
  • Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J Internal medicine (Tokyo, Japan) 57(6) 877-882 2017年12月 [査読有り] Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome[researchmap.jp]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • SHOWING 1-10 OF 459 REFERENCES The epidemiology of Leber hereditary optic neuropathy[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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Involuntary eyelid closure after STN-DBS: evidence for different pathophysiological entities. D. Weiss, T. Wächter, S. Breit, SN Jacob, JK Pomper, F. Asmus, J. Valls-Solé, C. Plewnia, T. Gasser, A. Gharabaghi, R.[dzne.de]

Prevention

  • 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]
  • Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores.[encyclopedia.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]
  • DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders. Kahle PJ, Waak J, Gasser T. (2009), Free Radic Biol Med. 2009 Aug 14.[dzne.de]
  • 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]

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