Autosomal dominant spastic paraplegia type 42 Disease definition A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting [orpha.net]

Patients with HSP due to SPG3A mutations classically present first symptoms younger. [journals.lww.com]

At present, 18 loci have been linked to ADHSP, and 9 genes have been identified. [nature.com]

(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. [journals.plos.org]

Acronym SPG42 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Weakness

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [uniprot.org]

• Asymptomatic

  Interestingly, Byrne et al 31 have just reported an Irish family linked to the SPG4 locus with four clinically affected males, but where four among five asymptomatic members carrying the at risk haplotype were women. [jmg.bmj.com]

  The father, brother, and uncle were both asymptomatic while the grandfather was wheelchairbound and the mother had abnormal gait. [omicsonline.org]

  Mutation analysis was performed in 10 at-risk, but asymptomatic, individuals from 4 families. [jamanetwork.com]

  This issue is especially relevant in studies based on genetic centre records, where clinical inclusion criteria are clearly needed to differentiate clinically affected patients from asymptomatic or presymptomatic carriers. [karger.com]

  Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis. JAMA Neurology, 72(11), 1268-1274. [sydney.edu.au]

• Heart Disease

  Your recognised location is United States (US) Coronary heart disease This article is freely available only to users in the UK. Your recognised location is United States (US) Melanoma This article is freely available only to users in the UK. [evidence.nhs.uk]

• Hearing Impairment

  In: Stephens D and L Jones (Eds), Genetic Hearing Impairment: Practical Issues. London, Whurr. [ereidlab.wordpress.com]

  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]

• Muscle Spasm

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [uniprot.org]

• Muscle Spasticity

  Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness. [emedicine.medscape.com]

  To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

  Key words: hereditary spastic paraplegia; spastic paraplegia; muscle spasticity; genetics; mutation RESUMO Paraplegias espásticas hereditárias (PEH) constituem um grupo de desordens geneticamente determinadas caracterizadas por espasticidade e paraparesia [scielo.br]

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

  The sum of the point values for spasticity of hip adductor muscles, spasticity of knee flexion, weakness of hip abduction, and weakness of foot dorsiflexion were designated as “spastic subscore”. [ojrd.biomedcentral.com]

• Psychomotor Retardation

  CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. [slc.bioparadigms.org]

  retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. [genecards.org]

  Disease description An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. [uniprot.org]

• Incontinence

  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]

  incontinence at least daily/nightly, while 27.4% needed to urinate more than eight times daily and 51.9% experienced sudden urges to urinate. [emedicine.medscape.com]

• Spastic Paraplegia

  Fink JK : Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006; 6 : 65–76. 2. Depienne C, Stevanin G, Brice A, Durr A : Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007; 20 : 674–680. 3. [nature.com]

  MalaCards based summary : Spastic Paraplegia 42, Autosomal Dominant, also known as spg42, is related to paraplegia and hereditary spastic paraplegia. [malacards.org]

  Name spastic paraplegia 3A FlyBase ID FBhh0000392 Disease Ontology Term Parent Disease This report describes spastic paraplegia 3A (SPG3A), which is a subtype of spastic paraplegia; it is an autosomal dominant form of the disease. [flybase.org]

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 42 Disease definition A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age [orpha.net]

• Spastic Gait

  […] of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. [orpha.net]

  HSP3A usually develops in early childhood with more than 80% of affected individuals developing spastic gait before 10 years of age. Later-onset cases are associated with more slowly progressive disease. [flybase.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]

  Spastic gait was absent in 9%, mild in 27%, and moderate or severe in 32%. [jamanetwork.com]

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [ipfs.io]

• Babinski Sign

  Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are babinski sign and degeneration of the lateral corticospinal tracts Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the [malacards.org]

  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]

  Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

• Lower Extremity Spasticity

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

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

  All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

• Myoclonus

  Parkinsonism ( PD, Postencephalitic, NMS ) · PKAN · Tauopathy ( PSP ) · Striatonigral degeneration · Hemiballismus · HD · OA Dyskinesia : Dystonia ( Status dystonicus, Spasmodic torticollis, Meige's, Blepharospasm ) · Athetosis, Chorea ( Choreoathetosis ) · Myoclonus [psychology.wikia.com]

  Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Movement Disorders, 17(3), 585-589. [More Information] Nicholson, G., Ouvrier, R. (2002). [sydney.edu.au]

While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs. [scielo.br]

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]

Treatment Treatment Options: No information on treatment has been reported. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

It is to be noted, however, that vinblastine treatment was associated with small levels of toxicity (Figure 1 and Supplemental Figure 4). [jci.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.com]

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 Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.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]

In complex cases, prognosis is strongly determined by additional manifestations. [scielo.br]

She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration). [medlink.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

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

Relevant External Links for SLC33A1 Genetic Association Database (GAD) SLC33A1 Human Genome Epidemiology (HuGE) Navigator SLC33A1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC33A1 No data available for Genatlas for SLC33A1 Gene A [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]

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 2013;41:118-130. [ Links ]. Vanacore N, Bonifati V, Fabbrini G, et al. Epidemiology of multiple system atrophy. [scielo.br]

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.com]

• Researchers are rapidly learning about the underlying pathophysiology behind the inherited ataxia syndromes. [medlink.com]

Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35. [scielo.br]

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]

The results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family. [bmcneurol.biomedcentral.com]

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]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]

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]

Diagnosis is also warranted to prevent patients from been submitted to unnecessary diagnostic tests. Patients with pure HSP mostly have a normal life-spam. [scielo.br]

The prevention of neurogenetic disease. Arch Neurol 1995; 52:356-62. [ Links ] Bruyn RPM, Scheltens PH. hereditary spastic paraparesis (Strumpell-Lorrain). En: Vinken PJ, Bruyn GM, Klawans HL, de Jong JMBV, eds. Handbook of Clinical Neurology. [scielo.sld.cu]