Acute onset dystonic camptocormia caused by lenticular lesions

The First Report on a Parkin Gene Mutation in a Taiwanese Family Early-onset parkinsonism with an onset before age 40 is quite hetereogenous in clinical, genetic, and pathologic aspects.Autosomal recessive juvenile parkinsonism (ARJP) is recognized as a distinct clinical entity characterized by early onset, sleep benefit, remarkable response to levodopa, and dopainduced dyskinesia. 1,2 The majority of the affected individuals reported in Japan are offspring of consanguineous marriages.Pathologic findings from several reports are also distinct in selective degeneration of nigral dopaminergic neurons without Lewy bodies. 3 Recently, the gene locus for ARJP was mapped to chromosome 6q25.2-q27, 4,5and subsequently, a large gene termed parkin consisting of 12 exons was firstly identified in Japanese families. 6There were several kinds of homozygous intragenic deletional mutations in the parkin gene found in Japanese families of ARJP. 7Reports of exonic deletions were also described in other ethnic groups. [8][][10] Other than exonic deletions, point mutations in exons 6 and 8 were further detected in Turkish families. 11 It is also interesting that a wide variety of point mutations rather than deletions have been reported to be more frequently responsible for this disease in Europe. 12 The high incidence of familial occurrence of earlyonset parkinsonism was also found among Chinese in Taiwan, in that 16% of the patients reported by Tsai et al. 13 had the age of onset below 40, and 37.5% below 20.Here we report a deletional mutation of exon 3 in parkin gene in two affected sibs of early onset parkinsonism from one autosomal recessive Taiwanese family. Subjects and MethodsClinical subjects consisted of nine patients with parkinsonism from five families.Detailed clinical history was obtained from all the affected patients and from some unaffected members.Presence or absence of consanguineous marriage was determined by careful analysis of family pedigrees.Physical and neurologic examinations were carried out by board certified neurologists.Presence or absence of atypical features such as dystonia and sleep benefit, response to levodopa, and levodopainduced motor fluctuations was particularly carefully analyzed.All the affected gave informed consent prior to their participation in this study.The polymerase chain reaction (PCR) for all exons was performed by using the same oligonucleotide primer pairs as described previously in detail. 4 All reactions were performed in a 25-l reaction mixture containing 50 mM KCl, 10 mM Tris (pH 8.3), 1.5 mM MgCl 2 , 0.01% gelatin with 10 pmol of paired primers, 10 nmol of each dNTP, and 2.5 of Ampli Taq Gold DNA polymerase (Perkin-Elmer, Applied Biosystems Division, Foster City, CA).Initial denaturation at 94°C for 10 minutes was followed by 40 cycles of 94°C for 30 seconds, 55°C for 30 seconds, and 72°C for 45 seconds, and then a final extension at 72°C for 10 minutes.The PCR products were visualized on ethidium bromide-stained 2% agarose gels and the presence or absence of the target exons was detected.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.