CASE PRESENTATION: We present a consanguineous Qatari family with two brothers, 9 and 3 years, who displayed a characteristic phenotype of early onset and markedly-severe spasticity with tiptoe walking, delayed dysarthric speech, persistent truncal hypotonia [ncbi.nlm.nih.gov]

The present family emphasizes SPG45 with NT5C2 mutations as a member of the TCC-SPG subgroup. [bmcmedgenet.biomedcentral.com]

A novel, 1954-bp homozygous deletion at the NT5C2 locus involving the entire coding exon 11 was identified to be present in both sequenced, affected siblings. [cyberleninka.org]

Despite recent pioneering improvements in intensified combination chemotherapy, 20% of pediatric and 50% of adult ALL patients present with primary drug-resistant leukemia or develop relapse. [academiccommons.columbia.edu]

• Enuresis

  […] patches of brownish discoloration begin to appear at 6 years old - (he is yet at the age of 3 years) - Skeletal abnormalities Equinus foot Equinus foot Equinus foot in one family Urine incontinence + [he developed the control just lately] + Nocturnal enuresis [bmcmedgenet.biomedcentral.com]

• Skin Discoloration

  discoloration appearing at different places on the body. [ncbi.nlm.nih.gov]

  Multiple and variable-sized areas of brownish skin discoloration were present at different places on his body (Fig. 1 .1). Fig. 1 Skin patches and Brain MRI. 1.1 : skin patches of brownish discoloration. Detected in the older patient. [bmcmedgenet.biomedcentral.com]

• Skin Patch

  Multiple and variable-sized areas of brownish skin discoloration were present at different places on his body (Fig. 1 .1). Fig. 1 Skin patches and Brain MRI. 1.1 : skin patches of brownish discoloration. Detected in the older patient. [bmcmedgenet.biomedcentral.com]

• Nocturnal Enuresis

  enuresis in only one case Reference This report This report [3] Genomic report HSP-panel testing involving 24 known HSP-related genes including those for SPG11 and SPG15 in a certified clinical lab, did not confirm the clinical diagnosis of HSP and was [bmcmedgenet.biomedcentral.com]

• Spastic Gait

  gait Commonly - More than 50% cases Lower limb spasticity Not very common - Between 30% and 50% cases Abnormal cerebellum morphology Commonly - More than 50% cases Paraplegia Not very common - Between 30% and 50% cases Spastic paraplegia And 18 more [mendelian.co]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.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]

  Coordination was normal and their gait was spastic. Although patients were not cooperative for sensory testing, no prominent sensory abnormality was detected. A summary of the clinical details can be found in Table 1. [cyberleninka.org]

• Lower Extremity Spasticity

  Spastic paraplegia 4, autosomal dominant Get Update Overview The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and [diseaseinfosearch.org]

  […] characterized by progressive, usually severe, lower extremity spasticity and weakness. [flybase.org]

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  “Complicated” HSP is the diagnosis given to an individual who suffers with lower extremity spasticity along with such neurological problems as peripheral neuropathy, seizures, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, and deafness [medschool.lsuhsc.edu]

• Babinski Sign

  Babinski sign was present and there was preserved abdominal-cutaneous reflex, but neither tremor nor dystonic features were observed. Coordination was normal and their gait was spastic. [cyberleninka.org]

• Walking Delay

  CASE PRESENTATION: We present a consanguineous Qatari family with two brothers, 9 and 3 years, who displayed a characteristic phenotype of early onset and markedly-severe spasticity with tiptoe walking, delayed dysarthric speech, persistent truncal hypotonia [ncbi.nlm.nih.gov]

  Developmental delay and marked lower limbs spasticity Delayed walking Speech delay + (speech started at age 3 years) + (speech started at age 2 and half years) - Speech dysarthria + + - Lower limbs Spasticity Markedly severe Markedly Severe Mild Back [bmcmedgenet.biomedcentral.com]

• Hyperreflexia

  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]

  Standardized clinical assessments were performed and included demographic information, family history, developmental history, and HSP core symptoms (age at onset, lower extremity weakness and spasticity, hyperreflexia, extensor plantar responses, and [ng.neurology.org]

• Legionella Pneumophila

  The structure was solved with one polypeptide per asymmetric unit, by Molecular Replacement using the structure of Legionella pneumophila NT5C2 (pdb entry: 2bde) as template. [thesgc.org]

In this context, we will perform detailed structure-function analysis of NT5C2 mutant proteins to guide the development of new therapies for the treatment of relapse and refractory ALL. [grantome.com]

Surprisingly, mutation of NT5C2 was not associated with response to relapse treatment. Response was assessed by histological examination and by PCR-based sensitive detection of minimal residual disease at different time points during treatment. [bloodjournal.org]

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]

Treatment of refractory and relapsed ALL has remained a significant clinical challenge with survival rates following relapse of only 40%, highlighting the need to understand the mechanisms which drive drug resistance and relapse of ALL. [academiccommons.columbia.edu]

This research proposal follows on our detailed structural and functional characterization of activated mutant forms of NT5C2 identified in relapsed ALL and seeks to set the basis for the development of mutant specific NT5C2 inhibitors for the treatment [alexslemonade.org]

[…] related to NT5C2 gene prognosis reporting PUBMED functional study NT5C2 differentiation "Diverse regulations also occurred with proteins in ...... " 15378696 Pubmed reporting Reported miRNA regulation of NT5C2 gastric cancer No result found. gene prognosis [cis.hku.hk]

Abstract Relapsed acute lymphoblastic leukaemia (ALL) is associated with resistance to chemotherapy and poor prognosis. [psychology.as.uky.edu]

Overview MeSH Major 5'-Nucleotidase Precursor Cell Lymphoblastic Leukemia-Lymphoma abstract Relapsed childhood acute lymphoblastic leukemia (ALL) carries a poor prognosis, despite intensive retreatment, owing to intrinsic drug resistance. [vivo.med.cornell.edu]

Recommend to your librarian Relapsed childhood acute lymphoblastic leukemia (ALL) carries a poor prognosis, despite intensive retreatment, owing to intrinsic drug resistance. The biological pathways that mediate resistance are unknown. [f1000.com]

Jude Children's Research Hospital, Memphis, TN Background Relapse remains as a formidable challenge for acute lymphoblastic leukemia (ALL), particularly because it is associated with dramatic drug resistance and thus dismal prognosis. [ash.confex.com]

Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [^] 26. [moldiag.com]

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. [genecards.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]

Consequently, they are often approached together in epidemiological studies. [karger.com]

Relevant External Links for SPG11 Genetic Association Database (GAD) SPG11 Human Genome Epidemiology (HuGE) Navigator SPG11 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SPG11 No data available for Genatlas for SPG11 Gene Mutations in [genecards.org]

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]

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. [31] A Norwegian study of more than 2.5 [en.wikipedia.org]

Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto and Shoji Tsuji, Molecular epidemiology [doi.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]

Neuroglial interactions mediated by purinergic signalling in the pathophysiology of CNS disorders. Semin Cell Dev Biol. 2011;22:252–9. View Article PubMed Google Scholar Inoue K. Microglial Activation by Purines and Pyrimidines. [bmcmedgenet.biomedcentral.com]

For long term storage store at -20C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot. [avivasysbio.com]

TSL:5 NT5C2-205 ENST00000452156.5 856 265aa ENSP00000396468 - Q5JUV4 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. [ensembl.org]

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]

Growth inhibition by bredinin was prevented by guanosine 5'-monophosphate (GMP), guanosine, or guanine but not by other purine or pyrimidine nucleotides, nucleosides, or bases [9]. [wikigenes.org]

Incorporation of 5’-nucleotidase inhibitors targeting NT5C2 to initial therapy regimens or to salvage regimens at the time of relapse, or greater use of anti-tumor agents that are not affected by changes in this metabolic pathway, may prevent drug resistance [hematology.org]