110 Possible Causes for Hereditary Early-Onset Parkinson Disease, Hypomimia

  • Parkinson's Disease

    PARK7 (Parkinson's disease autosomal recessive, early onset 7): PARK7 mutations are found in early-onset Parkinson's disease.[medicinenet.com] Other clinical features include secondary motor symptoms (eg, hypomimia, dysarthria, dysphagia, sialorrhoea, micrographia, shuffling gait, festination, freezing, dystonia,[jnnp.bmj.com] disease and early motor complications.[nejm.org]

  • Parkinsonian Disorder

    Parkinson’s disease is the most common neurodegenerative cause of parkinsonism.[movementdisorders.org] In addition to a general slowness of movement, the bradykinesia of Parkinson’s disease is typically demonstrated by a reduced or mask-like expression of the face (hypomimia[apdaparkinson.org] Kitada T, Asakawa S, Hattori N, et al: Mutations in the Parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.[clevelandclinicmeded.com]

  • Parkinson-Dementia Syndrome

    Murat Emre OUP Oxford , 8 jan. 2015 - 320 pagina's 0 Recensies In this edited volume, experts on the treatment of dementia associated with Parkinson's Disease (PD) describe[books.google.com] Presented at: Mental dysfunction in Parkinson’s disease. Amsterdam Google Scholar 9. Hutchinson M, Fazzini E (1996) Cholinesterase inhibition in Parkinson’s disease.[link.springer.com] Categories: alzheimers , CBGD , dementia , LBD , parkinson's disease , parkinsons dementia , PSP Tags: dementias , parkinson & dementia treatments , parkinson's disease ,[defeatparkinsons.com]

  • Parkinson's Disease Type 3

    Parkinson's disease type 3 (PD3) is a form of Parkinson's disease that is inherited in an autosomal dominant manner.[symptoma.com] Both autosomal dominant and autosomal recessive patterns of inheritance have been observed, and the underlying gene defects could be identified in some of the families affected[symptoma.com] Hereditary Parkinson's disease may then be diagnosed. There are distinct types of hereditary Parkinson's disease and they differ with regards to the underlying mutation.[symptoma.com]

  • Postencephalitic Parkinson Disease

    Aliases & Classifications for Postencephalitic Parkinson Disease Summaries for Postencephalitic Parkinson Disease Symptoms & Phenotypes for Postencephalitic Parkinson Disease[malacards.org] Symptoms and course Bradykinesia, rigidity, hypomimia, postural instability, gait disorders with falls and sialorrhea. Ophthalmoplegia and oculogyric crises.[alzheimer-europe.org] PARKINSON’S DISEASE Parkinson’s disease is characterized by a characteristic pill rolling tremor, bradykinesia, mask-like facies with a reduced blinking frequency (hypomimia[thebigl.co]

  • Juvenile Paralysis Agitans of Hunt

    (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.[scienceofparkinsons.com] Hypomimia- “masked facies”,expressionless face, blinking Speech abnormalities- Hypophonia: soft voice Aprosody of speech: monotonous and lack of inflection Tachyphemia: do[slideplayer.com] The facial expression is markedly different from the hypomimia and masking of PD.[neupsykey.com]

  • Dementia with Lewy Bodies

    Understanding Parkinson’s disease, PDD and LBD Parkinson’s disease Parkinson’s disease initially affects neurons in an area of the brain called substantia nigra.[asceneuron.com] About 40% of patients with Parkinson disease develop Parkinson disease dementia, usually after age 70 and about 10 to 15 yr after Parkinson disease has been diagnosed.[merckmanuals.com] Amid revelations that Robin Williams also suffered from Lewy body dementia, as well as Parkinson’s disease, before his death last year, we shed light on the little-known dementia[parkinsonslife.eu]

  • Neuroferritinopathy

    disease.[books.google.com] While 35% developed facial hypomimia and bradykinesia not directly related to their dystonia; only one individual developed a pure rest tremor, and another had tremor present[academic.oup.com] Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001 ; 28 : 350 –54.[jmg.bmj.com]

  • Pallidopyramidal Syndrome

    FBXO7 mutations cause autosomal recessive, early-onset parkinsonian- pyramidal syndrome . Neurology , 72 (3), 240-245.[moh-it.pure.elsevier.com] Pill-rolling tremor, hypomimia, hypophonia, stooping posture, striatal toes and equinovarous deformity may be noted.[neurologyindia.com] Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1.[journals.plos.org]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Onset is usually during infancy or early childhood. NORD has a separate report on Pelizaeus-Merzbacher disease. SPG3A: Autosomal dominant - Pure/Complex - 14q21 - ATL1.[cigna.com] Abel A, Fonknec Nen N, et al.: Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A . Neurogenetics 2004, 5 :239–243.[link.springer.com] Age of onset [ edit ] In the past, HSP has been classified as early onset beginning in early childhood or later onset in adulthood.[en.wikipedia.org]

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