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Autosomal Recessive Spastic Paraplegia Type 28



  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[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]
  • Since its first report from Québec, more than 100 disease-causing variants have been reported in ARSACS, with variable clinical presentation. MRI imaging may help establishing the clinical diagnosis, especially if typical changes are present.[oatext.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]
  • Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings.[jnnp.bmj.com]
Hemophilia A
  • Genetic Testing - Hemophilia A and B (Deficiencies of factor VIII and IX-Disease of Christmas-) (Hemophilia A and B) - Genes F8 and F9.[ivami.com]
  • A Sanger Sequencing of the F8 gene Hemophilia A Analysis for Intron 22 Inversion in F8 gene Hemophilia A Analysis for Intron 1 Inversion in F8 gene Hemophilia A Detection of large deletions and/or duplications in F8 gene Hemophilia B Sanger Sequencing[pentacorelab.hu]
Difficulty Walking
  • Progressive difficulty walking is the main problem and occurs due to taut and weak muscles. This manifests initially as stumbling, stubbing the toe, catching of the feet on uneven surfaces and sidewalks, clumsy gait, or difficulty with balance.[encyclopedia.com]
  • Most patients present with difficulty walking or gait disturbance, noticed either by themselves or a relative. In those with childhood onset, a delay in walking is not uncommon.[jnnp.bmj.com]
  • People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[ghr.nlm.nih.gov]
  • […] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia[slideshare.net]
  • Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.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]
  • Adolescence to early adulthood AD Complicated BSCL2 (SPG17) DNA Sequencing Progresses insidiously and may become severe 22 yrs, 12 – 35 yrs AD Uncomplicated NIPA1 (SPG6) DNA Sequencing Severe spasticity, hyperreflexia, lower-limb weakness and decreased[1pdf.net]
Cognitive Deficit
  • This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues).[books.google.com]
  • Patients with SPG3A and SPG4 have less disability and are less likely to develop cognitive deficits.[ng.neurology.org]
  • All had a prominent spastic paraplegia with cognitive deficits ( Supplementary Table 1 ).[nature.com]
  • deficits, thin corpus callosum, peripheral neuropathy and mild cerebellar ataxia7 13 – 23 yrs AR Complicated Insidious progressive bilateral lower-limb weakness, spasticity.[1pdf.net]
  • deficits have been found.[jnnp.bmj.com]
Lower Extremity Spasticity
  • 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]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
  • The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals[centogene.com]
  • Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, corticospinal tract signs, variable hypertonic urinary disturbances, and mild reduction of lower extremity vibration sense and proprioception.[ng.neurology.org]
  • Given that both of these disorders are treatable, dopa-responsive dystonia should be excluded in a child with progressive gait disturbance and lower-extremity spasticity of unknown etiology, whereas arginase deficiency should be considered in a young[emedicine.medscape.com]
Babinski Sign
  • 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]
  • Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency.[omicsonline.org]
  • III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity Limb ataxia Thigh muscle atrophy Patellar Tendon Reflex (PTR) Achilles Tendon Reflex (ATR) Babinski sign Vibration sense Normal Normal Sphincter involvement Mini-Mental State Examination[intechopen.com]
  • 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]
  • Primary lateral sclerosis The age of onset for primary lateral sclerosis (PLS) is usually between 40 and 60 years, with spasticity in the legs accompanied by hyperactive deep tendon reflexes, clonus, and Babinski sign.[emedicine.medscape.com]
Ocular Bobbing
  • bobbing in a patient with encephalitis associated with antibodies to the NMDA receptor Shimazaki H, Morita M, Nakano I, Dalmau J Arch Neurol 65(9) 1251 2008年 Novel SACS mutation in a Belgian family with sacsin-related ataxia Ouyang Y, Segers K, Bouquiaux[kyouingyousekidb.jichi.ac.jp]


  • While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs.[scielo.br]
  • 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]
Human Herpesvirus 6
  • 英語 :Sawada J, Nakatani-Enomoto S, Aizawa H, Katayama T, Ito T, Aburakawa Y, Kikuchi K , An Adult Case of Relapsing Human Herpesvirus-6 Encephalitis , Internal Medicine, 46 ((18)) (1617 - 1620) , 2007 , (IF:1.04) 19.[hyouka04.asahikawa-med.ac.jp]


  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[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]
  • For people with HSP who experience bladder control issues, treatment with oxybutynin might help to relieve bladder spasticity.[disabled-world.com]
  • 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]


  • 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 [ 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]
  • This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS.[emedicine.medscape.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]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Risch N et. al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [ ] 26.[moldiag.com]
  • Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS.[emedicine.medscape.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]


  • 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]
  • Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 2013;41:118-130. [ Links ]. Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy.[scielo.br]
  • An epidemiological and clinical study Brain, 114 (1991), pp. 855-866 [15] A. Durr Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond [16] OMIM. Online Mendelian Inheritance in Man, OMIM (TM).[elsevier.es]
  • Jorde LB et. al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6.[moldiag.com]
Sex distribution
Age distribution


  • 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]
  • 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]
  • 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]


  • 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]
  • These compounds are useful tools in basic biomedical research and may be further developed for the treatment, prevention, or diagnosis of disease.[leibniz-fmp.de]
  • Supportive care includes physical therapy , which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores.[encyclopedia.com]
  • Primary objectives of medical genetics were clear: diagnosis, treatment, and prevention of genetic disorders. 1 As a result, molecular diagnosis of such genetic disorders as Huntington disease (HD), Alzheimer disease, spinocerebellar ataxias (SCA), familial[elsevier.es]
  • Hip and knee muscle retraction prevents full leg extension.[oatext.com]

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