Clinical and genetic characterization of a large Dutch family with primary focal dystonia

We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society     

Cerebrospinal fluid rhinorrhea: depiction with MR cisternography in dogs

Canine cerebrospinal fluid rhinorrhea, which occurs frequently in purebred beagles, was demonstrated in two dogs on magnetic resonance images after cisternal introduction of gadolinium-DTPA dimeglumine.     

A review of Aston Patterning

Judith Aston is a somatic pioneer. She began as a dancer and physical education teacher. Severe accidents prompted her to seek out Ida Rolf who not only worked on her but also entrusted her with developing the Rolf movement curriculum. She next followed her instincts and refined her concepts for helping people problem solve. For the past 28 years she has continued to improve the Aston Paradigm^® combining bodywork, ergonomic supports, exercises and movement therapy.     

Dose-Dependent Resorption of Allograft by rhBMP-2 Uncompensated by New Bone Formation—A Canine Study With Implants and Zoledronate

Background

Impacted bone allograft is used to restore lost bone in total joint arthroplasties. Bone morphogenetic proteins (BMPs) can induce new bone formation to improve allograft incorporation, but they simultaneously invoke a seemingly dose-dependent allograft resorption mediated by osteoclasts. Bisphosphonates effectively inhibit osteoclast activity. Predicting allograft resorption when augmented with bone morphogenetic protein 2 (BMP-2), we intended to investigate whether a balanced bone metabolism was achievable within a range of BMP-2 doses with systemic zoledronate treatment.

Clinical and radiographic evaluation of bone tumors

Timely diagnosis of osseous tumors is essential in providing proper management. Appropriate imaging studies are essential to this process, however, if inconclusive, they can be superceded by information obtained through the patient history and physical examination. Disclaimer: Dr. Bhandari's salary was provided, in part, by a scholarship from the R.K Frasier Research Foundation