Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

Background: Although homozygous mutations in the PTEN-induced putative kinase 1 (PINK1) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear.

Objective: To investigate the role of homozygous and heterozygous PINK1 mutations in a large German pedigree (family W).

Design: Mutation analysis of PINK1 and results of standardized neurological and motor examination by 3 independent movement disorder specialists, including blinded video rating.

Functional MRI for immediate monitoring stereotactic thalamotomy in a patient with essential tremor.

The effect of stereotactic thalamotomy was assessed with pre- and postoperative functional magnetic resonance imaging (fMRI) under motor stimulation. A patient with unilateral essential tremor (ET) of the left arm underwent stereotactically guided thalamotomy of the right ventral intermediate thalamic nucleus (VIM). FMRI was done directly before and after surgery on a 1.

Functional MRI using multiple receiver coils: BOLD signal changes and signal-to-noise ratio for three-dimensional-PRESTO vs. single shot EPI in comparison to a standard quadrature head coil.

Purpose: To compare the performance of single shot echo planar imaging (SSEPI) with three-dimensional-multishot echo-planar imaging (EPI) based on principles-of-echo-shifting-with-a-train-of-observations (PRESTO) in combination with a standard quadrature head coil and, as an alternative, a multiple receiver coil in intraoperative functional magnetic resonance imaging (fMRI).

Materials And Methods: Six healthy subjects underwent fMRI with visual stimulation using a SSEPI and a PRESTO-sequence with both coil systems. Statistical evaluation was done with a scanner-based post-processing software and SPM 99.

Discriminating the cortical representation sites of tongue and up movement by functional MRI.

Purpose: The purpose of this study was to investigate the possibility to discriminate the representation sites of lip and tongue movement in the primary motor cortex (PMC). In contrast to preceding studies this research was particularly focused on single subject analysis.

Procedures: Six healthy right-handed volunteers underwent functional magnetic resonance imaging (fMRI) by means of a 1.

Intraoperative functional MRI as a new approach to monitor deep brain stimulation in Parkinson's disease.

This article deals with technical aspects of intraoperative functional magnetic resonance imaging (fMRI) for monitoring the effect of deep brain stimulation (DBS) in a patient with Parkinson's disease. Under motor activation, therapeutic high-frequency stimulation of the subthalamic nucleus was accompanied by an activation decrease in the contralateral primary sensorimotor cortex and the ipsilateral cerebellum. Furthermore, an activation increase in the contralateral basal ganglia and insula region were detected.