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Parkinson autosomal dominant

Polymeropoulos MH. Autosomal dominant Parkinson s disease and alpha-synuclein. Ann Neurol 1998 44 S63-S64. [Pg.273]

Lewy bodies, neurofibrillary lesions and Pick bodies are intracellular filamentous inclusions. It is now well established that Lewy bodies are made of the protein a-synuclein and both neurofibrillary lesions and Pick bodies of the microtubule-associated protein tau. Mutations in the a-synuclein gene or an increase in its copy number cause autosomal-dominantly inherited forms of Parkinson s disease and dementia with Lewy bodies. Mutations in the tau gene cause a familial form of frontotemporal dementia. Here we review the evidence implicating a-synuclein and tau in these inherited and a number of sporadic neurodegenerative diseases. Collectively, a-synucleinopathies and tauopathies account for the vast majority of cases of late-onset neurodegenerative disease (Tables 45-1 and 45-2). [Pg.746]

FIGURE 45-2 Missense mutations in the a-synuclein gene and multiplication of the chromosomal region containing the a-synuclein gene cause autosomal-dominantly inherited forms of Parkinson s disease and dementia with Lewy bodies. The a-synuclein gene is shown schematically in green. [Pg.747]

Frontotemporal dementias occur as familial forms and, more commonly, as sporadic diseases. They are characterized by a remarkably circumscribed atrophy of the frontal and temporal lobes of the cerebral cortex, often with additional, subcortical changes. In 1994, an autosomal-dominantly inherited form of frontotemporal dementia with parkinsonism was linked to chromosome 17q21.2. Subsequently, other forms of frontotemporal dementia were linked to this region, resulting in the denomination frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) for this class of disease. All cases of FTDP-17 have so far shown a filamentous pathology made of hyperphosphorylated tau protein (Fig. 45-7). In 1998, mutations in tau were reported in FTDP-17 patients [29-31]. Since then, more than 30 different mutations have been described in over 80 families with FTDP-17 (Fig. 45-6). [Pg.754]

DOPA-responsive dystonia (DRD) is a disorder characterized by childhood or adolescent onset dystonia and by the dramatic response to low-dose l-DOPA, a precursor of dopamine. DRD is a hereditary disorder in an autosomal dominant trait with reduced penetrance, and constitutes approximately 5 to 10% of primary dystonia in childhood and adolescence. DRD is caused by the dysfunction of nigro-striatal dopaminergic neurons, as indicated by the dramatic effect of l-DOPA. Although Parkinson s disease is also caused by the dysfunction of nigro-striatal dopaminergic neurons due to the degeneration of the dopaminergic neurons, the differences in symptoms, i.e. dystonia in DRD and parkinsonism in Parkinson s disease, has not yet been clarified. [Pg.165]

Parkinson s disease is caused by the premature degeneration of the dopaminergic neurons of the substantia nigra. Huntington s disease is known to be an inherited disorder with an autosomal dominance pattern. [Pg.259]

Frontotemporal dementia Approximately 10% of dementias. Initial complaint is often personality changes. Disinhibition withdrawal apathy hyperoral behavior (including weight gain) compulsions memory problems speech and language difficulty. Familial cases have approximately 40% autosomal dominant inheritance and may develop signs of Parkinson s disease. [Pg.136]

Genes Associated with Autosomal Dominant Parkinson s Disease... [Pg.713]

Parkinsonism whereas in other families with the same mutation, an autosomal dominant pattern of inheritance is present (Munoz et al., 2002 Tan et al 2003). Some reports suggest that carriers of PRKN mutations are more likely to have dystonia and symmetric symptoms than noncarriers, and some may even have atypical features such as psychiatric manifestations (Khan et al., 2003 Lucking et al., 2000). However, a wide overlap of Parkinsonian symptoms between some groups suggests that no specific diagnostic clinical feature can be demonstrated (Munhoz et al.,... [Pg.724]

Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimpiich A, Muller-Myhsok B, Farrer MJ, Gasser T, Caine DB, Dickson DW (2004) Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62 1619-1622... [Pg.754]

Keywords Receptors, nicotinic Parkinson s disease Alzheimer s disease Schizophrenia Autism Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) CHRNA5 CHRNA3 Nicotine dependence Tourette s syndrome Down syndrome... [Pg.757]

PSP is the second most common cause of Parkinsonism typified by early gait instability and difficulty with vertical eye movement. PSP is characterized by neurofibrillary tangles composed almost entirely of sdaight filaments of four repeats of Tau protein. Although most cases of PSP appear to be sporadic, genetic diatheses have been implicated. De Yebenes described a pattern of inheritance consistent with a Mende-lian autosomal dominant disorder (De Yebenes et al., 1995). Difficulty recognizing the variable phenotypic expression of PSP may be one reason fewer familial cases have been identified than expected (Rojo et al., 1999). The HI haplotype of the Tau gene has also been found to have association with increased risk for PSP, as it has been for PD (Conrad et al.. [Pg.470]

Waters CH, Miller CA (1994) Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 35 59-64. [Pg.660]

These include mutations of a-synuclein (which transcribes a presy-naptic protein) and parkin genes. These genes have been associated with autosomal dominant and autosomal recessive early-onset Parkinson s kindreds, respectively. Pathologic findings and some aspects of the phenotype are different from those in IPD however, parkin gene mutations may predispose to both early- and late-onset forms of IPD. ... [Pg.1075]

Golbe, L.I., Di lorio, G., Bonavita, V., Miller, D.C. and Du-voisin, R.C. (1990) A large kindred with autosomal dominant Parkinson s disease. Ann. Neurol. 27 276-282. [Pg.489]

Zimprich, A., Biskup, S., Leitner, P., et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44, 601-607 (2004). doi 10.1016/j. neuron.2004.11.005... [Pg.317]


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See also in sourсe #XX -- [ Pg.359 ]




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