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

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

Of the 18, six presented with both optic atrophy and neurological signs; six with optic atrophy only, and six with only neurological manifestations. [scinapse.io]

Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessives, and X-Linked Phenotypes presents catalogs in connection with the genetics of the X chromosome. [books.google.it]

A 19-year-old young man, born out of a nonconsanguineous marriage, presented with a history of progressive difficulty in walking for the past 3 years. [neurologyindia.com]

• Disability

  For a subset of patients (n = 65), disability was evaluated using the SPATAX-EUROSPA disability score, ranging from 0 (no disability) to 7 (severe disability/confined to bed). [ng.neurology.org]

  Some cases are seriously disabling while others are less disabling and are compatible with a productive and full life. [en.wikipedia.org]

  Individuals with complicated HSP exhibit additional neurologic features such as intellectual disability, seizures, ataxia, peripheral neuropathy, deafness, cataracts, retinal degeneration, or muscle atrophy, depending on which gene is causative. [invitae.com]

  Evenhuis HM: Medical aspects of ageing in a population with intellectual disability. II. Hearing impairment. J Intellect Dis Res 1995;39:27–33. [karger.com]

• Camping

  Mitochondrion. 2011; 11 :70–5. [ PubMed : 20656066 ] Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome. [ncbi.nlm.nih.gov]

  Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ (1994): Xlinked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet 3:2255-2256. [slidex.tips]

• 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]

• Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

  Headache, nausea, vomiting and occasional cranial nerve palsy (especial- ly involving the sixth cranial nerve) may result from in- creased intracranial pressure. [archive.org]

• Persistent Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Nausea

  Headache, nausea, vomiting and occasional cranial nerve palsy (especial- ly involving the sixth cranial nerve) may result from in- creased intracranial pressure. [archive.org]

• Spastic Gait

  [checkorphan.org] Neurodegenerative Erkrankung Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol. 2004 Jan;61(1):117-21. [de.dict.md]

  Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.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]

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

  […] feature is a progressive gait disorder. [enc.tfode.com]

• Cerebellar Sign

  Clinically, they are classified as “pure” when spastic paraplegia exists in isolation and as “complicated” when other major clinical features such as mental retardation, optic atrophy, retinopathy, ichthyosis, ataxia, deafness, cerebellar signs, muscle [neurologyindia.com]

  Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities. [ajnr.org]

  Patients with cerebellar signs were screened for mutations in FXN, SACS, and the common spinocerebellar ataxias (SCAs 1–8) prior to being included in the study. The complete data collection form is available as appendix e-1 at Neurology.org/ng. [ng.neurology.org]

  signs - - - Ophthalmolo-gical signs Latent convergent Squint improved following correction glasses, optic disk normal Hyper-metrope, no squint, normal optic disk Squint, glaucoma, or primary optic atrophy, each sign was reported once in a patient Brain [bmcmedgenet.biomedcentral.com]

  A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

• Myelopathy

  [aerzteblatt.de] Myelopathie A prospective survey of the causes of nontraumatic spastic parapesis and a tetraparapesis in 585 patients. Spinal Cord 1997; 35:361-7. Fehlings MG, Skaf G.. [de.dict.md]

  Syringomyelia Syringobulbia Morvan's syndrome Vascular myelopathy Foix–Alajouanine syndrome Spinal cord compression Both/either Degenerative SA Friedreich's ataxia Ataxia-telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary [enc.tfode.com]

  Hereditary and metabolic myelopathies. Handb Clin Neurol. 2016; 136 :769–85. [ PubMed : 27430441 ] Hedera P. Recurrent de novo c.316G>A mutation in NIPA1 hotspot. [ncbi.nlm.nih.gov]

• Irritability

  die Ileen meconium ileus [ MED. ] der Mekoniumileus kein Pl. paralytic ileus [ MED. ] [ MED. ] paralytischer Ileus [ Tiermedizin ] spastic ileus [ MED. ] [ MED. ] spastischer [dict.leo.org] Reizdarmsyndrom Synonyme Irritables Darmsyndom, Irritable [de.dict.md]

  […] dans la fraterie avec dcs.EEG normal pour lge: absence dasymtrie et de grapho-lements de la srie irritative. [vdocuments.mx]

• Spastic Quadriplegia

  Spastic paresis Spastic pelvic floor syndr... Spastic quadriplegia Spastic tetraplegia Spastic triplegia Spastic tubes Print Page Collapse All Expand All TFODE search provider Text Size: A A A A A Double-click Lookup: [enc.tfode.com]

  quadriplegia, and mental retardation ( ELOVL4) 44,000/- Rs Ichthyosis, X-linked ( STS) 44,000/- Rs IMAGE syndrome ( CDKN1C) 44,000/- Rs Immunodeficiency common variable type 1 ( ICOS) 44,000/- Rs Immunodeficiency common variable type 10 ( NFKB2) 44,000 [oricent.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]

• Colitis

  Reizdarmsyndrom Synonyme Irritables Darmsyndom, Irritable Bowel syndrome (IBS) Colon Irritable, Reizcolon, Spastic Colon, „nervöser Darm“ Überblick Da das Reizdarmsyndrom als Oberbegriff [gastroenterologie-berlin-mitte.de] Jacobson E: Spastic esophagus and mucous colitis [de.dict.md]

As new treatment modalities become available for previously untreatable diseases, the ability to detect subtle early findings, to assess disease progression, and to follow the effects of treatment has become increasingly important. [vdocuments.mx]

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]

Darmsyndom, Irritable Bowel syndrome (IBS) Colon Irritable, Reizcolon, Spastic Colon, „nervöser Darm“ Überblick Da das Reizdarmsyndrom als Oberbegriff [gastroenterologie-berlin-mitte.de] Jacobson E: Spastic esophagus and mucous colitis – Etiology and treatment [de.dict.md]

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. [enc.tfode.com]

Imaging Features of Intracranial Tumors Prognosis and treatment of intracranial tumors are high- ly dependent on tumor histology. [archive.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 [ 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]

As the degree of the oligocomponent increases, so does the prognosis [1, 3-5, 24-28]. Table 3. [archive.org]

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. [enc.tfode.com]

The group of 3 cases observed were young females aged respectively de 17, 18 et 23 years.The prognosis was good in the 3 cases with some relapses treated by high doses of methylprednisolone. [vdocuments.mx]

Irritables Darmsyndom, Irritable Bowel syndrome (IBS) Colon Irritable, Reizcolon, Spastic Colon, „nervöser Darm“ Überblick Da das Reizdarmsyndrom als Oberbegriff [gastroenterologie-berlin-mitte.de] Jacobson E: Spastic esophagus and mucous colitis – Etiology [de.dict.md]

Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR). [karger.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]

FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 56:72-76, 1995. American Psychiatric Association. DSM-IV. Washington DC: APA, pp39-46, 1994. [slidex.tips]

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]

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol. 1993 ; 10 : 17 – 25. 27. Hara, K, Onodera, O, Endo, M, Kondo, H, Shiota, H, Miki, K, et al. [cambridge.org]

Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet 2003; 63(2):83-101. 45. Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. [siicsalud.com]

POLR3A 10q22.3 Autosomal recessive Pathophysiology 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. [enc.tfode.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]

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]

[…] demonstrated.MR patternlinear and radialnodularCyst-like: 8/18 patients (1) iso intense to CSF(1) Van Tassel P et al, AJNR 1997 ; 18 : 1367MR Imaging highly sensitive in the detection of WM lesionsIntegrated description of clinical, neuroimaging and pathophysiological [vdocuments.mx]

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]

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. [enc.tfode.com]

Inability to recycle protein-bound biotin required in an unbound state as a cofactor for the 4 carboxylases induce lactic acidosis and organic aciduria.Early diagnosis and therefore treatment typically prevents neurologic sequelae.Diffusion-weighted imaging [vdocuments.mx]

Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution. [karger.com]