Edit concept Question Editor Create issue ticket

Autosomal Dominant Spastic Paraplegia Type 12

SPG12


Presentation

  • Acronym SPG12 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease[books.google.de]
  • In addition, some patients present without a family history.[link.springer.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]
  • 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]
Infertility
  • If at any time during the first breeding season following the sale a bull is injured so as to make them functionally infertile, we will provide you with a satisfactory replacement (if available), or issue you a credit equal to the bull’s purchase price[bjangus.com]
Developmental Disabilities
  • disability, and seizures 617157 610087 Autosomal recessive PRNP 20p13 {Kuru, susceptibility to} 245300 176640 PRNP 20p13 Huntington disease-like 1 603218 176640 Autosomal dominant PRNP 20p13 Cerebral amyloid angiopathy, PRNP-related 137440 176640 Autosomal[mnglabs.com]
Muscle Spasm
Lower Limb Muscle Weakness
  • Affiliated tissues include spinal cord, and related phenotypes are difficulty walking and lower limb muscle weakness Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the RTN2 gene on chromosome 19q13.[malacards.org]
Muscle Cramp
  • cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595[mnglabs.com]
Suggestibility
  • Suggestive evidence of genetic anticipation was obtained, but should be confirmed in other SPG12 families.[ncbi.nlm.nih.gov]
  • Suggestive evidence of genetic anticipation was obtained, but should be confirmed in other SPG12 families. Received February 8, 2002. Accepted July 14, 2002.[n.neurology.org]
  • DC Coreless motors, as the name suggests, have no iron core in the rotor. Instead, a copper wire winding in a basket configuration (coil) rotates around the outside of a cylindrical magnet.[namikisingapore.com.sg]
  • Suggestive evidence of genetic anticipation was obtained, but should be confirmed in other SPG12 families [2].[wikigenes.org]
  • In conclusion, these data confirm the presence of SPG10 (chromosome 12), potentially reduce the minimum candidate region for SPG12 (chromosome 19q), and suggest there is at least one additional autosomal dominant SPG locus.[springerlink.com]
Incontinence
  • Some forms are characterised by urinary incontinence or weakness and stiffness in other parts of the body; type 12 is characterised by onset between age 25–40, variably accompanied by cerebellar syndrome, supranuclear palsy and cognitive impairment, with[medical-dictionary.thefreedictionary.com]
  • In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.[uniprot.org]
  • In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:22232211}.[genecards.org]
Urinary Incontinence
  • Some forms are characterised by urinary incontinence or weakness and stiffness in other parts of the body; type 12 is characterised by onset between age 25–40, variably accompanied by cerebellar syndrome, supranuclear palsy and cognitive impairment, with[medical-dictionary.thefreedictionary.com]
Hyperreflexia
  • OMIM : 58 Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment.[malacards.org]
  • Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus.[neurology.org]
  • 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]
Spastic Gait
  • He described “a pure spastic movement disorder of the legs” in 2 brothers who developed a spastic gait at the ages of 37 and 56 years.[medlink.com]
  • 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]
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[en.wikipedia.org]
  • Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121.[els.net]
Lower Extremity Spasticity
  • Leppert First published February 1, 1995, DOI: Abstract Article abstract—“Familial spastic paraplegia” (FSP) refers to clinically and genetically diverse syndromes characterized by insidiously progressive lower extremity spasticity.[neurology.org]
  • 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]
  • extremity spasticity and weakness.[flybase.org]
  • Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease.[icd10data.com]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
Neurologic Manifestation
  • Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.de]
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.de]

Workup

  • It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia[hspersunite.org.au]

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]
  • Gilbert directs or participates in a number of single and multi-center studies into causes and treatments of Tourette's syndrome. Dr.[books.google.de]
  • 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]

Prognosis

  • 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]
  • 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]
  • […] ataxia(1), 劣性遺伝(1), 統合脳・病態脳(55) 研究分野 内科系臨床医学 / 神経内科学 / 神経科学 / 神経科学一般 / 経歴 テキストで表示 1 2 3 2004年 - 2009年 新潟大学 脳研究所 教授 2003年 - 2004年 新潟大学 医学部 教授 2000年 国際医療福祉大学 教授 1999年 国際医療福祉大学 保健学部 教授 1998年 自治医科大学 医学部・神経内科 助教授 論文 テキストで表示 1 2 3 4 [Clinical features of poor-prognosis[researchmap.jp]

Etiology

  • 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]
  • 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]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • Relevant External Links for RTN2 Genetic Association Database (GAD) RTN2 Human Genome Epidemiology (HuGE) Navigator RTN2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RTN2 No data available for Genatlas for RTN2 Gene Molecular cloning[genecards.org]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
  • An epidemiological and clinical study. Brain. 1991 ; 114 (Pt 2 ): 855 - 66. 3. Hazan, J, Fontaine, B, Bruyn, RP, Lamy, C, van Deutekom, JC, Rime, CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.[cambridge.org]
  • 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. [34] A Norwegian study of more than 2.5[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models.[books.google.de]
  • The identification and molecular characterization of additional HSP genes is key to improve our understanding of the underlying pathophysiology.[grantome.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]

Prevention

  • . - Not having an iron core in the rotor prevents cogging caused by magnetic induction; hence the rotation is smooth, with minimum noise and vibration. - By utilizing rare earth magnet with high magnetic properties together with a rotor in basket configuration[namikisingapore.com.sg]
  • 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]
  • It gives diagnostic certainty, prevents further unnecessary investigations and opens the possibility of predictive and prenatal testing.[link.springer.com]
  • Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores.[encyclopedia.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!