Symptoma

Autosomal Recessive Spastic Paraplegia Type 57

SPG57

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.de]

In the remaining 18 families yet to have a confirmed genetic diagnosis, two families presented with pure HSP, six families showed complex HSP, whereas 10 families presented with spastic ataxia. [nature.com]

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

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

Most patients presented with spastic paraparesis. Additional features included ataxia, dystonia, intellectual impairment, myoclonus, and parkinsonism. One patient presented with pure sensory and motor neuropathy. [ng.neurology.org]

  • Movement Disorder

    To further enhance the scope and quality of this new edition, the following Section Editors provided oversight of their respective sections: - Movement Disorders-Joel Perlmutter, Washington University - Dementias-David Knopman, Mayo Clinic - Motorneuron [books.google.com]

    Costeff H, Gadoth N and Apter N (1989) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39: 595–597. [els.net]

    At this time, a complex movement disorder phenotype was appreciated, with spastic, ataxic, myoclonic, and dystonic components. Reflexes were brisk, and he showed ankle clonus and a Babinski sign on the left. [ng.neurology.org]

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

  • Pain

    University of Iowa - Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University - Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center - Infectious Diseases of the [books.google.com]

    Hypertonic bladder benefits from anticholinergic drugs and neuropathic pain from gabapentin or pregabalin. Parkinsonism, dementia, and epilepsy are treated according to the respective guidelines. [centogene.com]

    He developed a spastic bladder and pain and numbness in both feet. On examination, the patient exhibited prominent lower extremity spasticity with mild distal muscle weakness and mild weakness of the hip flexors. Cognition was intact. [ng.neurology.org]

  • Visual Impairment

    Patients did not present with visual impairment as observed in a previously reported SPG57 family (c.316C T (p. [nature.com]

    Her neurologic examination disclosed visual impairment but otherwise unremarkable cranial nerves. Her speech was remarkable for scanning dysarthria. Her movements were bradykinetic, and she exhibited limb dystonia. [ng.neurology.org]

    Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]

  • Hyperreflexia

    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]

    All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia [ajnr.org]

  • Spastic Paralysis

    Eymard-Pierre E, Lesca G, Dollet S et al : Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the Alsin gene. Am J Hum Genet 2002; 71 : 518–527. 35. [nature.com]

    Lesca G, Eymard‐Pierre E and Santorelli FM (2003) Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60(4): 674–682. [els.net]

    Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD exclusive variant numbers ( ) ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR 20 AMPD2 102771 pontocerebellar hypoplasia 9 AR 7 AP4B1 607245 spastic [centogene.com]

    Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003 ; 60 : 674 –82 Marti-Fabregas J, Pujol J. [ajnr.org]

  • Babinski Sign

    Reflexes were brisk, and he showed ankle clonus and a Babinski sign on the left. [ng.neurology.org]

    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]

    sign, and scoliosis; within 10 to 15 years of onset, patients have to use wheelchairs. 22 In addition to axonal sensory polyneuropathy, auditory and optic neuropathy are also frequently observed. [elsevier.es]

  • Neurologic Manifestation

    Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University [books.google.com]

  • Excitement

    Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.de]

    GRM1 encodes the metabotropic glutamate receptor mGluR1 which is implicated in the modulation of intracellular Ca 2 levels and neuronal excitability. [wjgnet.com]

    The recent discovery of the spastin and paraplegin genes opens a new era of exciting opportunities in which we can begin to investigate the physiology of the motor system and the degenerative process it undergoes, hopefully offering opportunities for [jnnp.bmj.com]

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]

She developed urinary incontinence, and urological workup disclosed a spastic bladder. No dementia was evident. [ng.neurology.org]

Ali Fatemi Oxford University Press, 2016 - 1398 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments [books.google.com]

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]

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]

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]

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]

Identification of the specific mutation concerned is essential to establishing a prognosis and providing satisfactory treatment and proper genetic counselling. [elsevier.es]

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]

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]

Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]

MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues. [journals.plos.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]

Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [ ] 7. [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]

Ruano L, Melo C, Silva M, Coutinho P : The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014; 42 : 174–183. 8. [nature.com]

These studies illustrate neuropathological similarities between spastic paraplegias and ALS, and highlight the pathophysiological continuum of motor neuron degeneration. [icm-institute.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]

Conclusions: Our findings expand the spectrum of AP5Z1 -associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders. [ng.neurology.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]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.de]

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]