Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra

Felletschin, B

doi:10.1016/s0304-3940(03)01011-5

Cited by 4 publications

(4 citation statements)

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“…The mere involvement of the brain with predominating extrapyramidal symptoms in neuroferritinopathy could suggest that mutations in the L‐ferritin gene should be sought in patients with extraypyramidal disorders like PD. In a first mutational screening in 186 PD patients, in whom enhanced iron levels of the SN had been established by TCS beforehand, we did not find any sequence variation possibly causative for the disorder,150 indicating that mutations in the ferritin genes are not a common cause for PD with increased iron levels of the SN. Still, more studies involving larger numbers of patients are needed to confirm this finding.…”

Section: Iron Distribution and Metabolic Functionmentioning

confidence: 72%

Iron metabolism in Parkinsonian syndromes

2006

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Growing evidence suggests an involvement of iron in the pathophysiology of neurodegenerative diseases. Several of the diseases are associated with parkinsonian syndromes, induced by degeneration of basal ganglia regions that contain the highest amount of iron within the brain. The group of neurodegenerative disorders associated with parkinsonian syndromes with increased brain iron content can be devided into two groups: (1) parkinsonian syndromes associated with brain iron accumulation, including Parkinson's disease, diffuse Lewy body disease, parkinsonian type of multiple system atrophy, progressive supranuclear palsy, corticobasal ganglionic degeneration, and Westphal variant of Huntington's disease; and (2) monogenetically caused disturbances of brain iron metabolism associated with parkinsonian syndromes, including aceruloplasminemia, hereditary ferritinopathies affecting the basal ganglia, and panthotenate kinase associated neurodegeneration type 2. Although it is still a matter of debate whether iron accumulation is a primary cause or secondary event in the first group, there is no doubt that iron-induced oxidative stress contributes to neurodegeneration. Parallels concerning pathophysiological as well as clinical aspects can be drawn between disorders of both groups. Results from animal models and reduction of iron overload combined with at least partial relief of symptoms by application of iron chelators in patients of the second group give hope that targeting the iron overload might be one possibility to slow down the neurodegenerative cascade also in the first group of inevitably progressive neurodegenerative disorders.

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Section: Iron Distribution and Metabolic Functionmentioning

confidence: 72%

Iron metabolism in Parkinsonian syndromes

2006

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“…Moreover, microclial activation may contribute to the enhanced echogenicity 61, 108. Although a number of studies on a possible genetic contribution to the increased iron level in PD patients with SN hyperechogenicity have been performed,109–113 no simple answer on the involvement of a specific iron‐related pathway has been found. Nonetheless, it may be that this simple ultrasound finding may provide a link to the pathophysiology of the disease.…”

Section: Transcranial Sonographymentioning

confidence: 99%

Milestones in magnetic resonance imaging and transcranial sonography of movement disorders

et al. 2011

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Twenty-five years ago, when this journal was initiated, imaging of movement disorders was in its infancy. Since that time, magnetic resonance imaging has become a standard technique that is routinely performed in patients with movement disorders in order to exclude secondary causes and in some instances to provide specific information that aids in making the diagnosis of a neurodegenerative condition. Transcranial sonography is a more recent advance and is now widely employed to aid in the diagnosis of Parkinson's disease and possibly in detecting individuals in the premotor phases of the disease. Investigations are currently under way to evaluate the value of this technique in other movement disorders.

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“…Similarly, disruption of the mouse homologue of IRP2 leads to iron accumulation and neurodegeneration (La Vaute et al, 2001). Screening for mutations in PD patients revealed a K54R substitution in the ferritin-H gene, À77C>T in the IRP2 gene, and K91N and I217T in the HFE gene (Felletschin et al, 2003;Deplazes et al, 2004, Akbas et al, in preparation), but not in an equally large cohort of controls. Except for variations in the CP gene (Hochstrasser et al, 2004), none of the other variations was found to be associated with PD or SN hyperechogenicity as marker for the increased iron content.…”

Section: Role Of Iron Metabolism In the Pathogenesis Of Pdmentioning

confidence: 99%