Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Sequence Inversion”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 577 records · Page 32Linked to original sources
PubMed2002

Acute osteoporotic and neoplastic vertebral compression fractures: fluid sign at MR imaging.

PURPOSE: To evaluate the occurrence, location, and shape of the fluid sign in acute osteoporotic and neoplastic vertebral compression fractures at magnetic resonance (MR) imaging. MATERIALS AND METHODS: The study group comprised 87 consecutive patients with acute vertebral compression fractures due to osteoporotic (n = 52) or neoplastic (n = 35) infiltration. The MR imaging protocol included nonenhanced T1-weighted spin-echo and short inversion time inversion-recovery sequences and a 1.5-T system. Readers blinded to the outcome documented the occurrence, shape, and location of the fluid sign with consensus. The fluid sign was correlated with the cause, age, and severity of the fracture. The diagnosis was confirmed with surgery, follow-up MR imaging, clinical follow-up, or unequivocal imaging findings. Wilcoxon and chi(2) tests were used to assess significance. RESULTS: In fractured vertebral bodies, the fluid sign was adjacent to the fractured end plates and exhibited signal intensity isointense to that of cerebrospinal fluid. The fluid sign was linear (n = 16), triangular (n = 5), or focal (n = 2) and was significantly associated with osteoporotic fractures (21 [40%] of 52; P <.001). The fluid sign occurred in two (6%) of 35 neoplastic compression fractures. Histologic examination demonstrated osteonecrosis, edema, and fibrosis at the site of the fluid sign. There was a tendency toward older fractures exhibiting the fluid sign, but this relationship was not significant (P >.05). In osteoporotic fractures, the fluid sign was significantly associated with fracture severity (P <.05). CONCLUSION: The fluid sign is featured in acute vertebral compression fractures that show bone marrow edema. It can be an additional sign of osteoporosis and rarely occurs in metastatic fractures.

Aged↗
PubMed2003

MR quantification of hepatic iron concentration.

PURPOSE: To evaluate the accuracy of magnetic resonance (MR) imaging in the quantification of hepatic iron concentration. MATERIALS AND METHODS: Between April 1999 and June 2001, 112 patients were recruited prospectively. All had undergone liver biopsy and hepatic iron concentration quantification with spectrophotometry, followed by MR imaging. MR imaging involved use of four gradient-echo sequences and one spin-echo sequence. Signal intensity (SI) was measured on images obtained with each sequence by means of regions of interest placed in the liver and paraspinal muscle to obtain the liver-to-muscle SI ratio. The relationship between hepatic iron concentration and SI ratio for each sequence was analyzed with multiple linear regression. Receiver operating characteristic analysis was performed to find the diagnostic thresholds. RESULTS: Sixty-eight patients had normal hepatic iron levels (<36 micromol/g), 23 had hemosiderosis (36-80 micromol/g), and 21 had hemochromatosis (>80 micromol/g). With all sequences, an inverse linear relationship between iron concentration and SI ratio was apparent. The authors generated a mathematic model to estimate the iron concentrations from MR imaging data (r = 0.937). For estimated concentrations of more than 85 micromol/g, the positive predictive value for hemochromatosis was 100%; for those less than 40 micromol/g, the negative predictive value for hemochromatosis was 100%. For estimated concentrations of more than 58 micromol/g, the positive predictive value for iron overload was 100%; for those less than 20 micromol/g, the negative predictive value for iron overload was 100%. CONCLUSION: MR imaging is a useful and noninvasive diagnostic tool for quantification of hepatic iron concentration.

Adult↗
PubMed2004

Detection of synovial macrophages in an experimental rabbit model of antigen-induced arthritis: ultrasmall superparamagnetic iron oxide-enhanced MR imaging.

PURPOSE: To evaluate intravenously administered ultrasmall superparamagnetic iron oxide (USPIO) as a marker of macrophage activity in an experimental rabbit model of antigen-induced arthritis. MATERIALS AND METHODS: Unilateral arthritis was induced by means of intraarticular injection of methylated bovine serum albumin in 10 knees of 10 rabbits that had been presensitized to the same antigen. The contralateral knees in these rabbits, as well as six knees in three other rabbits, served as controls. After onset of arthritis, all knees were imaged prior to and 24 hours after administration of USPIO. The magnetic resonance (MR) imaging protocol included T1-weighted spin-echo, T2-weighted fast spin-echo, T2*-weighted gradient-echo, and short inversion time inversion-recovery sequences. Images were analyzed quantitatively and qualitatively with regard to signal characteristics and pattern. MR findings were correlated with histopathologic findings. Wilcoxon signed rank test was used to compare results of signal-to-noise ratio calculations before and after USPIO administration. RESULTS: All knees with intraarticular injection of antigen suspension developed unilateral arthritis, whereas no signs of arthritis occurred in the control knees. On USPIO-enhanced images obtained 24 hours after contrast agent administration, significant T1 (P =.03) and more predominantly T2* (P =.02) and T2 effects (P =.01) were evident in the synovium of all 10 arthritic knees, which reflected USPIO uptake by macrophages in the synovial tissue. To a lesser extent, T2* effects were present also within the joint effusion (P =.01). No significant changes in signal characteristics were detected in the 10 nonarthritic knees in the antigen-injected group or the six knees in the control group (P =.06-.91). Histologic examination confirmed uptake of iron in the macrophages of arthritic knees. Changes in MR signal characteristics within the arthritic synovium and synovial effusion were visually detectable after intravenous administration of USPIO. CONCLUSION: MR imaging at 1.5 T can depict USPIO uptake in phagocytic-active macrophages in an antigen-induced arthritis animal model.

Adjuvants, Immunologic↗
PubMed2005

Imaging of macrophages in soft-tissue infection in rats: relationship between ultrasmall superparamagnetic iron oxide dose and MR signal characteristics.

PURPOSE: To describe dose-dependent signal intensity (SI) characteristics of experimentally induced soft-tissue abscesses on 1.5-T T1- and T2*-weighted magnetic resonance (MR) images obtained 24 hours after administration of ultrasmall superparamagnetic iron oxide (USPIO) and to describe the relationship between SI and amount of USPIO uptake and macrophage iron content. MATERIALS AND METHODS: Local institutional review committee on animal care approved the experiments, which were performed according to the guidelines of the National Institutes of Health and the committee on animal research at our institution. Unilateral calf muscle abscesses were induced in 21 rats with an injection of a Staphylococcus aureus suspension. The rats were divided into three groups of seven animals each: low USPIO dose (50 micromol of iron per kilogram of body weight), high USPIO dose (150 micromol Fe/kg), and control (saline solution). All rats were imaged before and 24 hours after USPIO administration at 1.5 T (transverse T1-weighted spin-echo, T2*-weighted fast gradient-echo, and short inversion time inversion-recovery sequences). Images were analyzed quantitatively and qualitatively with regard to SI and signal pattern. Temporal variation of calculated contrast-to-noise ratios was analyzed with the Wilcoxon signed rank test. MR findings were correlated with histopathologic findings, including those of electron microscopy. RESULTS: Twenty-four hours after USPIO administration in the high-dose group, susceptibility effects were present in abscess periphery on postcontrast T2*-weighted images (P=.04), and SI enhancement was noted on postcontrast T1-weighted images within both abscess wall and abscess center (P=.04 for both). In the low-dose group, SI enhancement was noted in entire abscess on T1-weighted postcontrast images (P=.03). Neither significant SI loss (P=.09) nor susceptibility effects were detected in periphery or center of any abscess on postcontrast T2*-weighted images. There was no obvious difference in total amount of macrophages among the groups, but there was a clear difference with regard to individual iron content of iron-positive macrophages between the USPIO dose groups. CONCLUSION: At 1.5 T, SI characteristics of abscesses on T1- and T2*-weighted images obtained 24 hours after USPIO injection strongly depend on administered dose of the contrast agent. At low doses, T1 effects were stronger than T2* effects.

Abscess↗
PubMed1985

MR cisternography and myelography with Gd-DTPA in monkeys.

To enhance the contrast between cerebrospinal fluid (CSF), brain, spinal cord, and surrounding meninges and bone on magnetic resonance (MR) images, as well as to study CSF flow, gadolinium-DTPA was injected in the subarachnoid space of eight monkeys. Six doses of progressively higher concentrations (from .125 mmol to 250 mmol) were injected every 30-40 minutes. Images of head and spine were obtained at .26 T or .5 T in sagittal and axial planes, using both spin-echo and inversion-recovery sequences in 13 imaging experiments. Marked, consistent changes of signal intensity in the CSF cavities were observed following the injections. These changes were dose related and occurred at different times in the areas close to the injection site versus those distant, a disparity that obviously was related to CSF flow. Gd-DTPA cisternography and myelography may be valuable in MR imaging of central nervous system disease, such as tumors adjacent to the CSF cavities, abnormal CSF collections (e.g., arachnoidal cysts), CSF rhinorrhea and otorrhea, syringohydromyelia, and studies of hydrocephalus and CSF flow dynamics.

Animals↗
PubMed1986

Acoustic neuromas: Gd-DTPA enhancement in MR imaging.

Magnetic resonance (MR) imaging examinations were performed in ten patients with 12 acoustic neuromas before and after intravenous administration of 0.1 mmol/kg body weight gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA). The degree of enhancement was greatest with the inversion recovery sequence 1,500/500/44 (repetition time [TR]/inversion time/echo delay time [TE]), followed by spin-echo (SE) 544/44 (TR/TE) sequences, then by SE 1,500/44 and SE 1,500/80 sequences. After enhancement there was a 50% reduction for measured T1 values, 33% for T2, and no significant change for proton density. There were no toxic effects on patients. Enhanced CT scans failed to demonstrate lesions in six of 12 cases. Air-CT technique improved sensitivity in four of five cases. Enhanced MR imaging added significant clinical information in two small intracanalicular tumors and in one recurrent tumor.

Adult↗
PubMed1990

Comparison of Gd-BOPTA with Gd-DTPA in MR imaging of rat liver.

A new lipophilic compound, gadolinium benzyloxypropionictetraacetate (BOPTA), with a high rate of biliary excretion was assessed as a magnetic resonance (MR) hepatospecific contrast-enhancing agent and compared with Gd-DTPA (diethylenetriaminepentaacetic acid) in MR imaging of normal rats. T1-weighted spin-echo images obtained before and after administration of each contrast agent at doses of 0.25, 0.5, and 1.0 mmol/kg showed greater enhancement of the liver with Gd-BOPTA than with Gd-DTPA, with the advantage more evident at lower doses. Images obtained with an inversion recovery sequence at the null value of rat liver parenchyma after injection of 0.1- and 0.5-mmol/kg doses of the contrast agent provided better evidence of the greater and longer-lasting hepatic enhancement due to Gd-BOPTA when compared with that of Gd-DTPA. Gd-BOPTA is a potentially good contrast agent for obtaining prolonged enhancement of the liver, permitting studies during the long time needed to acquire conventional T1-weighted images.

Acetates↗
PubMed1991

Alzheimer disease: measuring loss of cerebral gray matter with MR imaging.

The distributions of the cerebral gray matter, the white matter, and the intracranial cerebrospinal fluid (CSF) were measured in 14 patients with Alzheimer disease (AD) and in 14 healthy control subjects. The measurements, derived from two specifically designed magnetic resonance inversion-recovery sequences, compensate for partial signal averaging. The percentage of the gray matter in the brains of AD patients (44.9% +/- 4.4) was significantly lower than in control subjects (50.2% +/- 3.2). The most significant reduction (P less than .001) occurred in the temporal lobes (13.8%) and a central region (12.8); the reduction in frontal lobe (11.2%) and occipital lobe (9.2%) was also statistically significant (P less than .01). There was an increase in the CSF volume in the temporal, occipital, and frontal regions; no region showed a significant difference in the white matter content. The findings of diffuse changes and temporal lobe involvement in AD are consistent with pathologic observations of cortical cell loss.

Aged↗
PubMed1993

Morton neuroma: evaluation with MR imaging performed with contrast enhancement and fat suppression.

PURPOSE: To evaluate clinically suspected Morton neuroma with contrast material-enhanced magnetic resonance (MR) images. MATERIALS AND METHODS: Fifteen patients with clinically suspected Morton neuroma underwent examination with conventional T1- and T2-weighted MR imaging and a combination of fat suppression and administration of gadopentetate dimeglumine. A T1-weighted spectral presaturation with inversion recovery sequence was used for fat suppression. RESULTS: In six patients, a tumor that conformed to the clinical findings was seen in the interdigital space; surgical findings in these patients correlated closely with the imaging findings in all patients. Patients without positive findings on MR images tended to have less typical clinical findings and received nonsurgical treatment. In all patients, the lesions were best depicted with the combination of contrast-enhanced imaging and fat suppression; conventional MR images either entirely failed to demonstrate the lesions or demonstrated the lesions less clearly. CONCLUSION: In patients who need imaging confirmation of a clinically suspected Morton neuroma, the combination of fat suppression and contrast enhancement provides reliable high-contrast images.

Adipose Tissue↗
PubMed1999

Total-body echo-planar MR imaging in the staging of breast cancer: comparison with conventional methods--early experience.

PURPOSE: To test breast cancer staging with total-body echo-planar magnetic resonance (MR) imaging. MATERIALS AND METHODS: Nineteen patients with newly diagnosed breast cancer were imaged by using a 1.5-T echo-planar MR system. By using a table sweep method, 180 contiguous axial images were obtained from the cranial vertex through the feet with T2-weighted spin-echo and inversion-recovery sequences. Results were compared with those of conventional imaging. Therapeutic decisions based on echo-planar MR imaging and conventional imaging results were compared. Diagnostic truth was determined by means of tissue diagnosis, further imaging findings, and follow-up findings (median, 18 months). RESULTS: Staging with total-body echo-planar MR imaging was correct in 18 patients (95%)--eight with metastases and 10 without--while staging with conventional imaging was correct in 15 patients (79%). In one patient, both echo-planar MR imaging and conventional imaging findings incorrectly indicated probable metastases. In one patient thought to have bone metastases at conventional imaging, echo-planar MR imaging findings were normal, which was correct. Two patients with stage IV disease were not suspected to have disease at conventional imaging: One had liver involvement and the other had skeletal metastases. The therapeutic decisions in these two patients were altered by the echo-planar MR imaging results. CONCLUSION: Total-body echo-planar MR imaging was at least as accurate as conventional imaging for staging newly diagnosed breast cancer and was faster, simpler, and completely noninvasive.

Adult↗
PubMed2000

MR imaging and histologic features of subinsular bright spots on T2-weighted MR images: Virchow-Robin spaces of the extreme capsule and insular cortex.

PURPOSE: To determine the cause and frequency of high-signal-intensity foci detected in the insular cortex and extreme capsule on thin-section, high-spatial-resolution, coronal, T2-weighted magnetic resonance (MR) images. MATERIALS AND METHODS: The authors assessed high-signal-intensity areas in the insular cortex and extreme capsule on coronal MR images obtained in 56 patients with seizure and five control subjects. Images were obtained with thin-section, high-spatial-resolution, T2-weighted, fast spin-echo; three-dimensional, spoiled gradient-recalled-echo; and fluid-attenuated inversion-recovery sequences. In two formalin-fixed brain specimens, MR imaging findings were correlated with gross anatomic and histologic findings. RESULTS: Subinsular bright spots were found in 53 of the 56 (95%) patients (96 of 112 [86%] hemispheres) and all five control subjects. The spots were elliptical in 30 patients, round in 14 patients, linear in 22 patients, and dotlike in seven patients and often had a featherlike configuration. The spots were isointense to cerebrospinal fluid on T2-weighted, fast SE images and were located in the anterior extreme capsule white matter and insular cortex. MR imaging of brain specimens revealed bilateral elliptical areas of high signal intensity that corresponded to small multiple cavities at gross anatomic inspection. At microscopic examination, these cavities were perivascular spaces of mostly arteriolar origin. CONCLUSION: High-signal-intensity subinsular foci at MR imaging are due to enlarged perivascular spaces. In most cases, these foci can be visualized on thin-section, high-spatial-resolution, coronal T2-weighted images; they should not be mistaken for pathologic conditions when they occur unilaterally.

Adolescent↗
PubMedDate not supplied

Ultrafast scan magnetic resonance in prenatal diagnosis.

OBJECTIVE: To determine whether magnetic resonance (MR) can give additional information in prenatal diagnosis of congenital anomalies, when the ultrasound (US) analysis is not conclusive. METHODS: Ultrafast MR scanning examined 39 pregnant women with 41 fetuses in whom US was suspicious of fetal congenital abnormalities. Two techniques were used namely (1) HASTE inversion recovery sequence and (2) FISP 2D. RESULTS: Thirty-nine patients with 41 fetuses were referred for MR because of an equivocal US with regard to brain, spine, skeletal and miscellaneous anomalies. In 1 twin pregnancy, 1 co-twin has not been examined with MRI because of its demise. In 22 of them, additional information was obtained by MR. In 9 the MR was confirmative with the US examination. Four were false negative, comparing with the postnatal diagnosis. Three failed because of maternal claustrophobia and in 2 a diagnosis could not be made. From the 40 fetuses in this study, 38 were examined postnatally by MR, US, plain X-ray or autopsy was performed to confirm the prenatal diagnosis. CONCLUSION: The use of MRI in obstetrics has been limited, until recently. With fast MRI sequences it is not necessary to sedate the fetus. It is advisable in cases where US is equivocal concerning congenital anomalies of the fetus to use MR with fast or ultrafast scan technique, especially when the central nervous system is concerned.

Brain↗
PubMedDate not supplied

Impaired cerebral glucose metabolism in eclampsia: a new finding in two cases.

The pathophysiology of the reversible neurological manifestation in eclamptic women remains unclear. We report on 2 women with eclampsia who were repetitively examined by (1) transcranial Doppler (TCD), (2) magnetic resonance imaging (MRI) including T1- and T2-weighted images, fluid attenuated inversion recovery sequence, dynamic susceptibility-weighted perfusion imaging and magnetic resonance angiography (MRA), and (3) (18)fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET). In both cases repetitive TCD revealed no signs of vasospasm; the same was true for MRA. MRI perfusion imaging showed completely homogenous cerebral blood flow in both cases. In the initial phase T2-weighted images revealed hyperintensities in both patients (predominantly bilateral frontal and parietal in 1 and in the temporo-occipital subcortex and the basal ganglia in the other). FDG-PET showed inhomogeneous glucose metabolism (GM) in both patients. Primary increased glucose utilization in the hyperintense T2-weighted areas as well as an attenuated GM parieto-occipital were observed in the 1st case; a high GM was found bilaterally in the basal ganglia and an attenuated one in the occipital cortex in the 2nd. In both cases MRI, and FDG-PET normalized within 3 weeks. These case reports document an altered cerebral GM in the presence of homogenous perfusion in eclamptic women. The high GM may be explained by a decoupling of cerebral perfusion and GM, possibly indicating an increased neuronal activity. The attenuation of the GM is most probably due to a deafferentation of cortical neurons.

Adult↗
PubMed2006

Tract identification by novel MRI signal changes following stereotactic anterior capsulotomy.

BACKGROUND: Five patients underwent magnetic resonance imaging (MRI) following MRI-guided stereotactic bilateral anterior capsulotomy to detect lesion-related anatomic changes. METHODS: Five disabled and treatment-resistant patients with major depression (n = 4) and obsessive-compulsive disorder (n = 1) underwent stereotactic bilateral anterior capsulotomy. All patients had postoperative MRI at 2 months and at 1-4 years after surgery. An additional patient who had a pure motor deficit following a spontaneous basal ganglia hemorrhagic stroke was imaged as a comparator. RESULTS: The 2-month postcapsulotomy MRI showed a previously undescribed increase in T1-weighted signal within similar neural pathways for each patient. These pathways showed no changes in T2-weighted or fluid-attenuated inversion recovery sequences. The signal changes are different from the expected changes associated with anterograde Wallerian degeneration and identify retrograde changes in the proximal segment of the interrupted axon. CONCLUSION: Previously undescribed T1-weighted signal alterations following stereotactic surgery identify retrograde non-Wallerian changes in interrupted axons and provide a new method in identifying and tracing lesioned pathways.

Adult↗
PubMed2006

Brain lesions on MRI in elderly patients with type 2 diabetes mellitus.

BACKGROUND AND PURPOSE: Diabetes mellitus (DM) type 2 has been associated with poor cognitive performance and dementia, particularly in elderly patients. The exact mechanisms underlying the cognitive dysfunction in DM remain unclear. Imaging studies of the brain could be helpful to give more insight into possible structural brain lesions underlying these cognitive dysfunctions. Therefore, we performed a study in independently living patients with DM type 2 in order to investigate the association between DM and brain imaging abnormalities. METHODS: The study population consisted of 45 patients with DM type 2 without hypertension (mean age 73.4 +/- 5.1 years, mean duration 16.5 +/- 11.5 years), 45 patients with DM type 2 and hypertension (mean age 73.5 +/- 6.1 years, mean duration 11.9 +/- 9.2 years) and 44 control subjects (mean age 73.1 +/- 5.4 years). All patients and control subjects underwent an MRI of the brain. White matter lesions (WML), cerebral atrophy and medial temporal lobe atrophy were rated by a standardized visual rating scale. Lacunar infarcts were defined as focal hypo-intensities on fluid-attenuated inversion recovery sequences with a hyperintense rim around it. RESULTS: WML occurred more frequently in diabetic patients with hypertension as well as without hypertension. Significantly more deep WML were found in DM patients with and without hypertension when compared to control subjects, whereas no difference was found in the occurrence of periventricular hyperintensities. In all 3 groups, lacunar infarcts occurred sporadically. A trend towards higher atrophy scores was seen in patients with DM compared to control subjects. CONCLUSIONS: The data of this cross-sectional study suggest that type 2 DM is an independent risk factor for deep WML in the independently living elderly patients.

Aged↗
PubMedDate not supplied

Heat shock response, heat shock transcription factor and cell aging.

A characteristic feature of aging is a progressive impairment in the ability to adapt to environmental challenges. The purpose of this article is to review the evidence of an attenuated response to heat and physiological stresses in a number of mammalian aging model systems, including the human diploid fibroblasts in culture, whole animals and animal-derived cells and cell cultures, as well as peripheral blood mononuclear cells obtained from human donors. Analyses of the regulation and function of heat shock factor 1 (HSF1), a transcription factor that mediates the response to heat shock, showed that while the relative abundance of both the hsf1 transcript and the HSF1 protein did not change as a function of age, the responsiveness of HSF1 to heat-induced activation, as measured by its trimerization and ability to bind to the heat shock element consensus sequence, was inversely related to the age of the cells used. Given the fundamentally important role of heat shock proteins (HSPs) in many aspects of protein homeostasis and signal transduction it seems likely that the inability, or compromised ability, of aging cells and organisms to activate HSF1 and produce HSPs in response to stress would contribute to the well-known increase in morbidity and mortality of the aged when challenged.

Aging↗
PubMed1988

[Neutron spin tomography of the optic nerve in retrobulbar neuritis and optic nerve atrophy: demonstration of inflammation and demyelination].

Detection of inflammatory lesions of the optic nerve by magnetic resonance imaging requires a special imaging technique. In 3 patients with persisting visual loss due to retrobulbar neuritis we scanned the optic nerve with a short inversion recovery sequence. In each of the 3 patients magnetic resonance imaging revealed inflammatory lesions in the intracanalicular portion of the optic nerve. It is supposed that the unfavorable location of the lesions in the optic canal is responsible for the poor recovery of visual acuity. In another patient with a bilateral optic nerve atrophy demyelination of the optic nerve could be made visible.

Adult↗
PubMed1995

Linkage disequilibrium between the expanded (CAG)n repeat and an allele of the adjacent (CCG)n repeat in Huntington's disease patients of Greek origin.

Huntington's disease (HD) is associated with an expanded unstable (CAG)n repeat in the IT15 gene. This repeat was investigated in 44 HD patients and 59 of their relatives at risk who were members of 29 unrelated families from various parts of Greece. Abnormal elongation of the (CAG)n repeat ranging from 39 to 95 trinucleotide units was found in all but one of the 44 HD patients tested with 70% of these patients showing 42-47 repeats. The size of the expanded sequence correlated inversely with the age at disease onset (r = 0.77, p < 0.00001, n = 43). In a single sporadic case, de novo expansion of the (CAG)n repeat was detected. Twenty-four of 59 asymptomatic family members at risk showed expansion of the (CAG)n repeat in the HD range (39-56 trinucleotide units) while three had intermediate alleles (36-37 repeats). Evaluation of the adjacent polymorphic (CCG)n repeat showed a strong linkage disequilibrium between the 7-unit (CCG)n repeat allele and the HD mutation, with 51% of normal and 93% of HD chromosomes showing this allele (chi 2 = 15.55, p < 0.0001, n - 260). These data on HD patients of Greek origin are consistent with the thesis that the (CAG)n expansion is the primary gene defect of the disease and that this mutation occurred primarily on chromosomes with the (CCG)7 repeat haplotype.

Age of Onset↗