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Autosomal Recessive Spastic Paraplegia Type 54

SPG54


Presentation

  • Therefore, gait impairment is present in the vast majority of individuals with HSP. Urinary urgency is also a common symptom which can be an early presenting sign.[bmcresnotes.biomedcentral.com]
  • Acronym SPG54 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Bob Tennant presents a history of the missionary work, cultures, and rhetoric of the Church of England in 1760-1870, when it was the predominant organizer of Protestant overseas missions.[books.google.ro]
  • RESULTS Gene identification In family THI26003, seven homozygous SNVs and one homozygous Indel were present; two of the SNVs as well as the Indel didn’t segregate with the disease.[nature.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]
Short Stature
  • The phenotype is characterized by early onset of spastic paraplegia, mental retardation, short stature and dysgenesis of the corpus callosum.[miami.pure.elsevier.com]
  • Most common symptoms of SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Strabismus More info about SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 SOURCES[mendelian.co]
  • stature and skeletal abnormalities SPG9B 616586 ALDH18A1 10q24.1 Autosomal recessive Early SPG10 604187 KIF5A 12q13.3 Autosomal dominant Early SPG11 604360 SPG11 15q21.1 Autosomal recessive Variable SPG12 604805 RTN2 19q13.32 Autosomal dominant Early[ipfs.io]
Constipation
  • […] of the digestive system Bowel incontinence Constipation Dysphagia Abnormality of the genitourinary system Urinary incontinence ... ...[familydiagnosis.com]
High Arched Palate
  • Spastic paraplegia was further complicated by short stature, high arched palate and dysgenesis of the corpus callosum especially in the dorsal parts ( Figures 2a and b ). Figure 2 Cranial MRI/CT scans of DDHD2 patients.[nature.com]
Macula
  • ., 2001 ) 14q22–q24 Complex 13-23 Yes – Intellectual deterioration, pigmented macula, CC and brainstem atrophy SPG20 ( Patel et al ., 2002 ) 13q12.3 Spartin Complex Early childhood Yes – Mental retardation, shortness of stature SPG21 ( Simpson et al .[academic.oup.com]
Emotional Lability
  • ., 2005 ) 12p11.1–12q14 – Complex 22–42 No Yes Emotional lability, tongue tremor, mild intellectual impairment SPG27 ( Meijer et al ., 2004 ; Ribai et al ., 2006 ) 10–q22.1–q24.1 – Pure, complex 2–45 Yes Yes Mental retardation, microcephaly, facial dysmorphia[academic.oup.com]
Urinary Incontinence
  • No fecal or urinary incontinence was observed.[cags.org.ae]
  • No urinary incontinence was reported in the younger sister–sister pair. This was difficult to assess in the other pair because they were on diapers.[bmcresnotes.biomedcentral.com]
  • She showed saccadic eye pursuit, dysarthria, dysphagia, limb muscle weakness, extensor plantar reflexes, limb and truncal ataxia, and urinary incontinence.[nature.com]
Hyperreflexia
  • All the affecteds suffered intellectual disability and/or developmental delay, spastic paraplegia, hyperreflexia and foot contractures. Spasticity in upper limbs and dysphasia were variably noticed. No fecal or urinary incontinence was observed.[cags.org.ae]
  • The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations.[neurohic.com]
  • 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]
Neurologic Manifestation
  • Further neurological manifestations can be identified through brain MRI, such as thinning of corpus callosum and periventricular white matter lesions.[cags.org.ae]
  • Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.com]
Excitement
  • Other features like hypomania, a psychiatric anomaly of extreme excitement, visual impairments like strabismus or nerve optic hypoplasia, and dysarthria, a speech articulation abnormality as reported by Schuurs-Hoeijmakers et al. [ 11 ] were not observed[bmcresnotes.biomedcentral.com]
  • 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]
Babinski Sign
  • The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations.[neurohic.com]
  • In pure forms, clinical features consist of isolated pyramidal signs, such as brisk reflexes, Babinski sign, spasticity and motor deficit, which can be associated with sphincter disturbances and deep sensory loss.[academic.oup.com]
Sleep Disturbance
  • Roos, Indiana University - Sleep Disturbances-Mark Dyken, University of Iowa - Substance Abuse and Toxicology Disorders-Barry E. Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C.[books.google.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.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]
  • 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 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: 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]
  • 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]
  • […] 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

  • 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]

Epidemiology

  • […] with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Synonym(s): - SPG54 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • 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.[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]
Sex distribution
Age distribution

Pathophysiology

  • Identification of more than 39 HSP 1 genes highlights intracellular membrane trafficking, mitochondrial metabolism and myelin formation as key functions involved in HSP pathogenesis. 2 Only recently lipid metabolism has emerged as another main theme in HSP pathophysiology[nature.com]
  • J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review).[link.springer.com]
  • This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP.[academic.oup.com]
  • 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]
  • 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]

Prevention

  • Protein coding - E9PKE6 NM_001164234 NP_001157706 3' truncation in transcript evidence prevents annotation of the end of the CDS.[ensembl.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]
  • 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]
  • […] sequencing ER : Estrogen receptor positive NSCLC: Non small cell lung cancer FBS: Fetal bovine serum LNA: Locked nucleic acid Declarations Acknowledgments This work was supported in part by the National Institutes of Health grant CA130075 and the Cancer Prevention[bmcgenomics.biomedcentral.com]

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