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]

  Please enable JS and disable any ad blocker [cairn.info]

  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]

• 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]

• Hearing Impairment

  Our genetic study demonstrated one large Scottish pedigree linked to a novel ADHSP locus (SPG29), in which patients were affected by a complicated form of ADHSP with peculiar clinical features, including hearing impairment, pes cavus, and hiatal hernia [siicsalud.com]

  Warburg M: Visual impairment among people with developmental delay. J Intellect Dis Res 1994;38:423–432. 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]

  The mental impairment was noticed during early childhood and appeared nonprogressive. None of them had had convulsions and all had normal vision and hearing. All appeared to have relatively poor speech. Physically they were all healthy. [slidex.tips]

• Muscular Atrophy

  atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21 Amyotrophic lateral sclerosis G12.22 Progressive bulbar palsy G12.23 Primary [icd10data.com]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

  Atrophy, Lower Extremity, Autosomal Dominant Spinocerebellar Ataxia With Dysmorphism Spondylometaphyseal Dysplasia, Kozlowski Type Trisomy 18p Yuan-Harel-Lupski Syndrome Causes List for Foot Symptoms List of possible causes of Foot Symptoms or similar [familydiagnosis.com]

  Mutations in BICD2 cause a complex neurological phenotype consisting of major features of congenital spinal muscular atrophy and hereditary spastic paraplegia 8. [centogene.com]

  […] corpus callosum is characterized by normal motor development, slowly progressive spastic paraparesis, and dementia developing from the early second decade along with various complicated symptoms such as spastic tetraplegia, muscular atrophy, extrapyramidal [neurologyindia.com]

• Muscle Spasticity

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

  A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16 :473–485. PubMed Google Scholar 55. [link.springer.com]

• Psychomotor Retardation

  Rs Mental retardation, X-linked type 32 ( CLIC2) 44,000/- Rs Mental retardation, X-linked type 41 ( GDI1) 44,000/- Rs Mental retardation, X-linked type 44 ( FTSJ1) 44,000/- Rs Mental retardation, X-linked type 45 ( ZNF81) 44,000/- Rs Mental retardation [oricent.com]

• Spastic Paraplegia

  Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

  Spastic paraplegia type 8 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves spasticity of the leg muscles and muscle weakness. [ghr.nlm.nih.gov]

  […] autosomal dominant spastic paraplegia. [de.dict.md]

• Dysarthria

  66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [jnnp.bmj.com]

  There were subtle cerebellar signs in the upper limbs and mild cerebellar dysarthria. Ophthalmological examination showed normal retinal and macular findings, but visual acuity was 0.3–0.5. [journals.plos.org]

  His speech showed mild dysarthria. He has learning difficulties and is attending a mainstream school with extra support. Multiple and variable-sized areas of brownish skin discoloration were present at different places on his body (Fig. 1 .1). [bmcmedgenet.biomedcentral.com]

  Mutations in VAMP1 gene are causing spastic ataxia 1 (SPAX1), a rare neurodegenerative disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysphagia, dysarthria, and gait disturbance 19. [centogene.com]

  […] onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior hairline, dental crowding, short broad neck, mild brachycephalic microcephaly, a chubby appearance), cerebellar dysarthria [intechopen.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]

• Abnormal Gait

  Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo-bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the [scinapse.io]

  gait Can walk unsupported with tip toe walking and abnormal gait Some can walk unsupported, others walk with support Gait abnormality + (Unsteady gait while walking associated with lumber lordosis, knees flexion, limited foot movements, limited knees [bmcmedgenet.biomedcentral.com]

  Many mutated genes are linked to abnormal lipid metabolism. [en.wikipedia.org]

• Lower Extremity Spasticity

  Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. [icd10data.com]

  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]

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]

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]

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]

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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

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]

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]