geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Autosomal recessive parkinsonism


, : Autosomal recessive parkinsonism. Parkinsonism & Related Disorders 18 Suppl 1: S4-S6

Several forms of autosomal recessive parkinsonism are known. In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. Parkin mutations are most frequent, explaining -50% of the cases with a clinical diagnosis of familial Parkinson's disease compatible with recessive inheritance and onset <45 years, and -15% of the sporadic cases with onset <45. Mutations in PINK1 and DJ-1 are less common, accounting for -1-8%, and -1-2% of the sporadic cases with early-onset. Since point mutations and genomic rearrangements can be present, sequencing and exon dosage are both required for accurate mutational screening of these genes. The phenotype of parkin mutations is characterized by early-onset parkinsonism, good response to levodopa, and benign course. The average onset age is in the 30s, but late-onset cases have been described. The phenotype associated with PINK1 and DJ-1 mutations has been studied in a smaller number of patients but it is overall indistinguishable from that of parkin. Mutations in other genes, including ATP13A2 (PARK9), PLA2G6 (PARK14), and FBX07 (PARK15), cause more rare forms of recessive parkinsonism with very early-onset (<30 years) and usually additional, atypical features (pyramidal, dystonic, ocular movement, and cognitive disturbances). Yet, it is expected that other monogenic forms of parkinsonism will be identified in the future, as mutations in the above-mentioned genes are not found in other patients with similar phenotypes.

US$19.90

PMID: 22166450

DOI: 10.1016/S1353-8020(11)70004-9


Other references

Suarez, J.I.; Cohen, M.L.; Larkin, J.; Kernich, C.A.; Hricik, D.E.; Daroff, R.B., 1997: Acute intermittent porphyria: clinicopathologic correlation. Report of a case and review of the literature. Acute intermittent porphyria (AIP), an autosomal dominant disorder, results from a deficiency of the enzyme hydroxymethylbilane synthase. Despite important advances in the characterization of AIP, the pathophysiology of the neurologic manifestatio...

Ng, P.P.; Leow, Y.H.; Ng, S.K.; Goh, C.L., 1998: Allergic contact dermatitis to epoxy resin in a hemodialysis cannula. A patient with chronic renal failure on hemodialysis presented with dermatitis, particularly over the arteriovenous fistulae sites on the forearm. Patch testing revealed a positive reaction to epoxy resin present in the glue that fixed the needle...

Marks, B.L.; Katz, L.M.; Haky, J.E.; Foss, G.; Torok, D.J., 1998: Cardio-pulmonary response to a 2 percent aminophylline cream. Medicine & Science in Sports & Exercise 30(5 SUPPL ): S215, May

Anonymous, 2013: Ganglioside GM3 inhibits murine ascites hepatoma cell motility and migration in vitro through inhibition of phosphorylation of EGFR at specific tyrosine sites and PI3K/AKT signaling pathway. Two related sublines derived from murine ascites hepatoma cell lines Hca-F25, which were selected for their markedly different metastatic potential to lymph nodes, were found to be differ in their ganglioside patterns. The low metastatic cell line...

Inglis, G.D.; McAllister, T.A.; Busz, H.W.; Yanke, L.J.; Morck, D.W.; Olson, M.E.; Read, R.R., 2005: Effects of subtherapeutic administration of antimicrobial agents to beef cattle on the prevalence of antimicrobial resistance in Campylobacter jejuni and Campylobacter hyointestinalis. The influence of antimicrobial agents on the development of antimicrobial resistance (AMR) in Campylobacter isolates recovered from 300 beef cattle maintained in an experimental feedlot was monitored over a 315-day period (11 sample times). Groups...

Wadlington, W.B.; Riley, H.D., 1968: Arthritis and hemolytic anemia following erythema infectiosum. Two patients had erythema infectiosum complicated by arthritis. One also exhibited a hemolytic anemia in association with the infection. This represents the first report of the occurrence of hemolytic anemia in association with erythema infectiosu...

Hosokawa, K., 1970: Binding of 5 S ribosomal ribonucleic acid to the unfolded 50 S ribosomes of Escherichia coli II. Journal of Biological Chemistry 245(22): 5880-5887

Lacourciere, Y.; Poirier, L.; Lefebvre, J.; Archambault, F.; Boileau, G.; Cleroux, J., 1996: Preservation of physical performance after regression of left ventricular hypertrophy in elderly hypertensives. Clinical & Investigative Medicine 19(4 SUPPL ): S42

Wong, A.K.O.; Beattie, K.A.; Bhargava, A.; Cheung, M.; Webber, C.E.; Chettle, D.R.; Papaioannou, A.; Adachi, J.D., 2016: Bone lead (Pb) content at the tibia is associated with thinner distal tibia cortices and lower volumetric bone density in postmenopausal women. Conflicting evidence suggests that bone lead or blood lead may reduce areal bone mineral density (BMD). Little is known about how lead at either compartment affects bone structure. This study examined postmenopausal women (N=38, mean age 76 ± 8,...

Yaguchi, S.; Yamazaki, A.; Wada, W.; Tsuchiya, Y.; Sato, T.; Shinagawa, H.; Yamada, Y.; Yaguchi, J., 2016: Early development and neurogenesis of Temnopleurus reevesii. Sea urchins are model non-chordate deuterostomes, and studying the nervous system of their embryos can aid in the understanding of the universal mechanisms of neurogenesis. However, despite the long history of sea urchin embryology research, the m...