Development of corticobasal syndrome in a patient with congenital erythropoietic porphyria

Sidorsky, Tivon; Christine, Chadwick W.; Epstein, John H.; Berger, Timothy G.

doi:10.1016/j.parkreldis.2013.12.004

Cited by 2 publications

(2 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…57–59 Other symptoms, such as neurological manifestations, are not common, although Parkinson disease and corticobasal syndrome have been reported to be involved in some CEP patients. 60,61…”

Section: Dental-craniofacial Disorder-related Rare Diseasesmentioning

confidence: 99%

Dental-craniofacial manifestation and treatment of rare diseases

et al. 2019

View full text Add to dashboard Cite

Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attract research by companies. However, due to the attention of government and society as well as economic development, rare diseases have been gradually become an increasing concern. As several dental-craniofacial manifestations are associated with rare diseases, we summarize them in this study to help dentists and oral maxillofacial surgeons provide an early diagnosis and subsequent management for patients with these rare diseases.

show abstract

Section: Dental-craniofacial Disorder-related Rare Diseasesmentioning

confidence: 99%

Dental-craniofacial manifestation and treatment of rare diseases

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Neurological implications are not common in CEP even though CEP cases with neurological manifestation, such as Parkinson disease and corticobasal syndrome, have been reported (Darwich et al , ; Sidorsky et al , ). It cannot be excluded that these manifestations could only be age‐related, but at the same time, it was presumed that a long‐term overproduction of porphyrins and their accumulation in the meninges and brain could contribute to the development of neurodegenerative disorders via tissue damage from porphyrin oxidative stress.…”

Section: Clinical Symptomsmentioning

confidence: 99%

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

2016

View full text Add to dashboard Cite

Congenital erythropoietic porphyria (CEP) is a rare genetic disease resulting from the remarkable deficient activity of uroporphyrinogen III synthase, the fourth enzyme of the haem biosynthetic pathway. This enzyme defect results in overproduction of the non-physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I. The predominant clinical characteristics of CEP include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out. A more pronounced endogenous production of porphyrins concomitant to activation of ALAS2, the first and rate-limiting of the haem synthesis enzymes in erythroid cells, has also been reported. CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out.

show abstract

Development of corticobasal syndrome in a patient with congenital erythropoietic porphyria

Cited by 2 publications

References 8 publications

Dental-craniofacial manifestation and treatment of rare diseases

Dental-craniofacial manifestation and treatment of rare diseases

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

Contact Info

Product

Resources

About