Frontotemporal dementia and parkinsonism linked to chromosome 17--the first Polish family.

BACKGROUND: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is a neurodegenerative disorder with various clinical phenotypes. We present the first Central-Eastern European family (Gdansk Family) with FTDP-17 because of a P301L mutation in microtubule-associated protein tau (MAPT). METHODS: We have studied a family consisting of 82 family members, 39 of whom were genetically evaluated. The proband and her affected brother underwent detailed clinical and neuropsychological examinations. RESULTS: P301L mutation in MAPT was identified in two affected and five asymptomatic family members. New features included hemispatial neglect and unilateral resting tremor not previously reported for P301L MAPT mutation. Low blood folic acid levels were also detected. CONCLUSIONS: Our report suggests that FTDP-17 affects patients worldwide, but because of its heterogenous clinical presentation remains underrecognized.

Neurological and psychiatric disorders in thyroid dysfunctions. The role of nuclear medicine: SPECT and PET imaging.

Thyroid dysfunctions may be accompanied by numerous neurological and psychiatric disorders. The most known is cognitive impairment and depression in hypothyroid patients, as well as an increased risk of cerebrovascular accidents. A separate, although a rare entity, is Hashimoto's encephalopathy. In hyperthyroidism there is an increased incidence of psychiatric disorders, including apathetic hyperthyroidism and hyperthyroid dementia. Functional imaging of cerebral blood flow and metabolism helped establish both global and/or regional decrease of both cerebral blood flow and metabolism in hypothyroidism, particularly in regions mediating attention, motor speed and visuospatial processing. Hypothyroid dementia may be mediated by neurocircuitry different from that in major depression. Less is known on flow/metabolism changes in hyperthyroidism. Global blood flow may be slightly increased, with regional deficits of blood flow, particular in hyperthyroid dementia. As presented above radionuclide functional imaging showed some metabolic patterns in thyroid dysfunctions, but still many issues remain unresolved. In particular little is known about the underlying pathology of cognitive impairment and depression in hypothyroidism, which may differ from ones in euthyroid patients. Also little is known about the reversibility of changes in cerebral blood flow following thyroid replacement therapy. In hyperthyroid patients functional imaging might contribute to elucidate the background of apathetic hyperthyroidism and potential different background of psychiatric complications.

The influence of radioisotope vehicle on breast sentinel node detection.

AIM: To assess the relationship between carrier molecule size and time elapsing between marker injection and sentinel node(s) biopsy in patients with breast cancer. MATERIAL: The study performed on 122 women, in whom the sentinel node(s) was identified according to the procedure described below. In Group I (n=72 patients), SN identification was done with radioisotope marker of 400-3000 nm molecule size (tin colloid). In Group II (n=50 patients) radioisotope marker of <100 nm molecule size (colloidal albumin) was used. METHODS: All the patients of both groups received the markers with a single-point, intradermal, periareolar injection. Four hours after the injection (Group I - surgery in the next day) or immediately before the surgery (in this same day) (Group II), stationary lymphoscintigraphy was performed. RESULTS: Mean numbers of sentinel nodes identified with the radioisotope method in Groups I and II were 1.22 and 1.48, respectively. The difference was statistically significant (p<0.01). CONCLUSIONS: There is a relationship between the radioisotope marker molecule size and the injection-to-intra-operative evaluation time. Administration of small molecule size radioisotope marker several hours prior to the planned surgery appears to be the optimum procedure in this method of SN identification in patients with breast cancer.

Increased cerebral blood flow in anemic patients on long-term hemodialytic treatment.

CBF was measured in 15 patients on chronic hemodialytic treatment. CBF was measured with xenon-133 inhalation using single photon emission tomography. In addition, computerized tomography (CT) and a neurological examination were done prior to hemodialysis. Mean CBF was 66.2 +/- 17.3 (SD) ml 100 g-1 min-1, which was significantly higher (t-test, p less than 0.05) than for an age-matched control group (54.7 +/- 10.2 ml 100 g-1 min-1). However, the hematocrit for the patients was considerably lower, 0.30 +/- 0.07, as compared to 0.43 +/- 0.03 in the controls. A significant negative correlation was observed between CBF and the hematocrit (y = -1.79x + 120.7, r = -0.71, p less than 0.01). Calculating CBF from this equation in the dialyzed patients using a hematocrit of 0.43 yielded a mean CBF value of 43.7 ml 100 g-1 min-1, i.e., 20% below the expected. Two patients showed a focal CBF decrease. CT showed central or cortical atrophy in five patients, and two had small hypodense lesions. The neurological examination revealed slight to moderate dementia in seven cases. Although mean CBF was found to be increased by 21% as compared to the control group, an even higher CBF level would have been expected to outweigh the decreased oxygen carrying capacity of the blood. The findings suggest a lowered metabolic demand of the brain tissue, probably due to subtle brain damage.

Increase of size and dry mass of mouse erythrocytes depending on age of donors.

It was found that during aging of mice the size and the dry mass of their erythrocytes increased. Similarity of this phenomenon to that observed during aging in vitro and in vivo is suggested.

Cerebral blood flow response to propranolol in streptozotocin diabetic rats.

The influence of propranolol on cerebral blood flow (CBF) was tested in streptozotocin diabetic rats and in control animals. Resting CBF values were 40% lower in the diabetic rats compared with controls. Intravenous injection of propranolol (2 mg kg-1) decreased CBF significantly in the control group; the CBF decreased for 15 min after propranolol injection and returned to baseline values after 90 min. In the diabetic rats, the CBF declined steadily but this decrease did not reach significance, even after 90 min. Impaired beta-adrenergic mechanisms may be an important factor in the CBF alterations which occur in diabetes mellitus. Further, it is suggested that an impaired CBF response may play a role in CNS lesions in diabetic patients treated with beta antagonists.

Cerebral blood flow in Sjögren's syndrome using 99Tcm-HMPAO brain SPET.

Neuropsychiatric disturbances are frequent in connective tissue diseases. Little is known about the cerebral pathophysiology of Sjögren's syndrome, including cerebral blood flow disturbances. 99Tcm-HMPAO brain SPET was performed in 21 Sjögren's syndrome patients. We also studied 77 patients with systemic lupus erythematosus and 27 healthy individuals. Our results demonstrate the high rate of alterations in cerebral blood flow in Sjögren's syndrome, both psychoneurologically symptomatic and asymptomatic. Focal interhemispherical perfusion deficits were seen in 17 of 21 patients (80.9%) with Sjögren's syndrome: 13/15 symptomatic (86.6%) and 4/6 asymptomatic (66.6%). These changes were mostly localized in the prefrontal and frontal areas, occipital lobes and occipitoparietal area, and less frequently so in the temporal, parietal and central areas. Diffuse hypoperfusion of the frontal lobes (bilateral hypofrontality) was seen in 29% of patients in the Sjögren's group. An acetazolamide stress test was performed in seven patients. There was an increase in perfusion deficits in two patients, no change in two patients, and hypoperfusion decreased in three patients compared with baseline. The results indicate that most Sjögren's syndrome patients experience alterations in cerebral blood flow that are consistent with systemic lupus erythematosus, with heterogeneous reactivity to acetazolamide-induced hypercapnia. These alterations present as focal perfusion deficits and bilateral diffuse hypoperfusion of the lobes. The mechanism of cerebral blood flow alterations is unknown, although it might be the result of diffuse cerebral vasculitis.

Cognitive impairment in patients with renal failure is associated with multiple-infarct dementia.

PURPOSE: Patients undergoing long-term renal replacement therapy (such as dialysis) have an increased risk for significant cognitive impairment, which may result in memory problems and subsequently missed attendance at dialysis. The aim of this study was to try to identify any abnormalities of cerebral perfusion that could explain a patient's cognitive impairment and to determine if the pattern of these abnormalities would suggest a cause. MATERIALS AND METHODS: 17 patients (13 men; mean age, 60 years; age range, 29-74 years) in end-stage renal failure or on dialysis had SPECT imaging 10 minutes after injection of 550 MBq (15 mCi) Tc-99m HMPAO. Two of the patients had a history of previous stroke. Other risk factors for stroke were noted in most of the patients (hypertension in 10 patients, smoking or former smoking in 10 patients, and cardiac atherosclerosis in 7 patients). In all patients, attenuation correction was applied and the images were reconstructed into three sets of orthogonal slices. Activity in the frontal and temporal lobes was compared by quantification against the ipsilateral and contralateral cerebellum. RESULTS: Discrete cortical defects consistent with infarcts were seen in 14 patients. The mean right and left frontal-to-cerebellar ratio was 0.837 (SD, 0.09) and 0.837 (SD, 0.08), respectively. This was not significantly different from the right and left temporal-to-cerebellar ratios of 0.843 (SD, 0.07) and 0.848 (SD, 0.07), respectively. Both were within normally accepted ranges. CONCLUSIONS: Patients in end-stage renal failure who also had cognitive impairment appear to have a high number of cortical defects consistent with infarcts (suggesting a multiple-infarct type of dementia). There was no evidence of Alzheimer-type dementia.

Does quantification of myocardial perfusion SPECT study differ while image reconstruction is carried out using iteration algorithm instead of filtered back-projection?--preliminary report.

BACKGROUND: The purpose of this study was to compare the performance of two reconstruction algorithms: conventional filtered back-projection (FBP) and an iterative algorithm--ITW--in quantitative analysis of myocardial perfusion SPECT studies. The defect size and defect severity were assessed on (99m)Tc-MIBI images reconstructed using both methods and estimation of sensitivity in the detection of perfusion deficits and myocardial viability were performed as well. METHODS AND RESULTS: The study group comprised 43 patients (38 men and 5 women) in the age of 40-73 years (mean 59 years). Heart perfusion scintigraphy was performed following an injection of 22 to 25 mCi 99mTc-MIBI for exercise and rest myocardial perfusion study. Images were reconstructed using FBP and ITW algorithms. Defect size (DS) was quantified by a threshold program and CEqual programme. Defect severity (nadir) was calculated as the ratio of minimal/maximum counts from bull?s eye polar map. Coronary arteriography was performed in all patients. RESULTS: Defect size calculated by threshold method on resting images did not differ between reconstruction methods (p=0.61 for cut-off 50% and p = 0.24 for cut-off 60%); defect severity was higher on images reconstructed with ITW (CI(0.95) = 2.4%;5.2% of maximal counts). CONCLUSIONS: Sensitivity for detection of heart perfusion defects and estimation of myocardial viability were similar on images reconstructed by both algorithms.

Use of lung and brain perfusion imaging in the HELLP syndrome.

Patients with multi-organ disorders may present with a plethora of confusing symptoms and signs. Often early diagnosis of significant disease is essential and can be difficult with standard radiological techniques. This case report presents the use of two radioisotopic techniques to assess brain and lung perfusion in a patient with such an acute-multi-organ disorder-the HELLP syndrome.

Cerebral blood flow SPECT may be helpful in establishing the diagnosis of progressive supranuclear palsy and corticobasal degeneration.

BACKGROUND: We present 4 cases, which illustrate the usefulness of neuroimaging studies in atypical forms of Parkinsonism. Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) are rare neurodegenerative progressive disorders of the central nervous system of unknown cause. The clinical accuracy in this diagnosis is not very high even in centres specialising in movement disorders. Functional imaging can be helpful in diagnosing PSP and CBD. MATERIAL AND METHODS: We present the results of cerebral blood flow (CBF) SPECT scanning in 2 patients with PSP and 2 patients with CBD. This was performed using a triple-head gammacamera and 99m Tc-HMPAO. RESULTS: In PSP patients a diffuse frontal perfusion deficit was seen, eventually with striatal and occipital hypoperfusion. CT/MRI was either normal or showed a diffuse cortical-subcortical atrophy. In CBD patients left fronto-parieto-temporal cortex and a striatal hypoperfusion were shown. CT scanning was normal in one case and showed an asymmetrical temporo-parietal atrophy in second one. CONCLUSIONS: The pattern of diffuse frontal perfusions deficit in PSP and asymmetrical, contralateral to symptoms of CBD, cortico-subcortical hypoperfusion may be helpful in establishing the correct diagnosis.

The usefulness of CBF brain SPECT in forensic medicine. A description of four cases.

BACKGROUND: The aim of this study was to show the applications of cerebral blood flow SPECT scanning in forensic medicine using four cases: two suspects and two victims of crime. MATERIAL AND METHODS: Cerebral blood flow studies were performed with the use of (99m)Tc-ECD and a triple head gammacamera. Qualitative and quantitative analysis was performed, utilising an asymmetry index for unilateral perfusion deficits and a comparison to cerebellar perfusion for assessing the regional cerebral perfusion. For assessing the normal values, a control group of 30 patients was studied. RESULTS: In these cases CBF SPECT scanning proved its usefulness in medico-legal argument and played an important role in formulating the final forensic expert's opinion. CONCLUSIONS: Radionuclide cerebral blood flow studies may play a role in forensic medicine, where this method it is mostly under-utilised at present.

Cerebral blood flow changes in Parkinson?s disease associated with dementia.

Dementia is one of the main non-motor symptoms of Parkinson's disease (PD) and it is diagnosed in about 30% of cases. Its aetiology remains unclear and contributing factors are controversial. Dementia may be more common in old patients with severe motor symptoms and mild cognitive impairment. Clinico-pathological studies show the association between dementia in PD and the age-related group of dementias, such as AD and VaD. A valuable aid in the assessment of dementia in PD is cerebral blood flow (CBF) brain SPECT scanning. It shows three different patterns of rCBF reduction, including frontal lobe hypoperfusion, Alzheimer-like type of hypoperfusion and multiple, vascular defects. The heterogeneity of rCBF reduction may reflect the multifactorial pathophysiology of dementia in PD. It may result from concomitant AD pathology, cerebrovascular disease, destruction of nigro-striato-frontal projection or may be a distinct disease of different aetiology.

Current status and future plans of Nuclear Medicine Procedure Guidelines in Central and Eastern European EANM member societies compared with those in other EANM member societies.

The main aim of the EANM Task Group on Quality Assurance and Standardisation is to develop harmonised clinical procedures that are accepted within Europe. In order to achieve an evidence-based analysis of guidelines this Task Group conducted a survey by means of a questionnaire in the 27 EANM member societies in July 1999, which investigated the current status of national guidelines in EANM member societies, specification of the cover and level of these national guidelines, and future desires for national, EANM and SNM guidelines. A reanalysis of the data of this survey was undertaken to evaluate the differences and similarities between 9 Central and Eastern European (CEE) EANM member societies and 18 non-CEE (mainly Western European) EANM member societies with regard to the aforementioned investigated topics. The results of this reanalysis show only minor differences between CEE and non-CEE EANM member societies with regard to the aforementioned topics. Both in CEE and in non-CEE EANM member societies, there is limited coverage of existing guidelines, leaving most procedures uncovered. Although the infrastructure for guideline development is present in both groups, the main explanation for this similarity is the limited advancement of the guideline development process, in both the CEE and non-CEE EANM member societies. Both groups are willing and ready for guideline development at the EANM level, with more concordant than discordant reasons for this. This allows a synchronous implementation of procedure guidelines in CEE EANM member societies.

Technetium-99mTc-HMPAO brain SPECT in antiphospholipid syndrome--preliminary data.

BACKGROUND: Antiphospholipid syndrome (APS) is defined as the presence of repeated episodes of arterial or venous thrombosis, recurrent spontaneous abortions and thrombocytopenia in patients with elevated antiphospholipid antibodies. An important feature of APS are cerebrovascular disorders of thrombotic origin. The aim of the study was to assess cerebral blood flow changes utilising brain SPECT HMPAO scanning. METHODS: Brain SPECT (99m)Tc-HMPAO scanning was performed in 20 patients with APS: 12 with systemic lupus erythematosus, 4 with Sneddon's syndrome, 2 with Sjögren's syndrome, 2 with primary APS. 30 healthy volunteers served as a control group. RESULTS: 19 studies were abnormal, 1 normal. Abnormalities consisted of multifocal perfusion deficits and diffuse decrease of regional blood flow. The average number of focal perfusion deficits was 4.8 +/- 1.7. In 7 patients diffuse hypoperfusion of frontal lobes was seen, in 1 patient additionally hypoperfusion of temporal and occipital lobes. There was a correlation between the number of focal perfusion deficits and cognitive impairment in this group of patients. Correlation between SPECT images and clinical data was moderate in cerebellar syndrome and paresis, weak in persistent headache and vertigo. CONCLUSIONS: Those results indicate the high utility of CBF brain SPECT scanning in antiphospholipid syndrome.

Cerebral blood flow assessed by brain SPECT with 99mTc-HMPAO utilising the acetazolamide test in systemic lupus erythematosus.

BACKGROUND: Cerebrovascular diseases are one of the most important complications of systemic lupus erythematosus (SLE). The diagnostic imaging of neuropsychiatric SLE complications presents many problems. This study was undertaken to investigate cerebral blood flow char s and its reactivity to hypercapnia by means of acetazolamide test in SLE patients. METHODS: Brain SPELT studies using 99mTc-HMPAO were performed in 50 patients with SLE. Acetazolamide test was performed in 35 patients 3 days after the baseline study by means of repetitive scanning 20 min after i.v. injection of 1.0 g of acetazolamide. RESULTS: Significant interhemispheric hypoperfusion areas were shown in 76.3% of all patients, 83.8% symptomatic and 63.1 % asymptomatic. Patients with antiphospholipid syndrome showed multifocal perfusion deficits. The reaction of cerebral perfusion to acetazolamide was heterogenous and showed increase, decrease, no change or mixed reaction of baseline-study-found focal hypoperfusion. Acetazolamide test revealed hypoperfusion in two patients with normal baseline study. MRI scanning revealed cerebral lesions in 41 % of patients. CONCLUSIONS: CBF asymmetries in symptomatic and asymptomatic patients with SLE are frequent. Regional CBF alterations seem to be different in patients with and without antiphospholipid syndrome. The part of the patients with SLE shows no or paradoxically inversed reaction to acetazolamide.

Ilizarov treatment of tibial nonunions results in 16 cases.

Treatment with the Ilizarov technique was performed in 16 patients with complex tibial nonunions. Two years post treatment the functional stage and patient satisfaction were recorded. There were 4 hypertrophic, 3 atrophic and 9 infected nonunions. Eleven patients had segmental bone loss. Fifteen nonunions united, and limb length discrepancy was reduced within 1.5 cm of the contralateral leg. Average time in the frame was 182 days. Fifteen of the 16 patients were satisfied with the treatment. One patient demanded an amputation after 3 months of treatment, despite good signs of healing. There were no refractures or recurrent infections. In conclusion the Ilizarov technique for complex nonunions has a high rate of success in achieving union and eradicating infection, bone loss and malalignment. The treatment is demanding both to the surgeon and to the patient, but we strongly recommend the Ilizarov treatment for tibial nonunion, especially in cases with chronic infection and severe bone loss.

[Cortico-basal degeneration. Diagnosis and differentiation and the description of the first case in Poland]. / Zwyrodnienie korowo-podstawne. Diagnostyka i róznicowanie oraz pierwszy polski opis przypadku.

Idiopathic Parkinson Disease accounts for approximately 75% of all cases of parkinsonism. The described case of Corticobasal Degeneration (CBD), until now not presented in Polish medical literature is a relatively rare example of so-called "parkinson plus" syndrome. The authors present the case of a 56 years old woman with asymmetric onset of rigidity and atypical tremor of upper extremity followed by gait disturbances (gait apraxia), dysarthria, bilateral pyramidal signs and myoclonus. Complete lack of clinical improvement after treatment with L-dopa and progressive character were observed from the onset of the disease. The presented case seems to be helpful in differential diagnosis of parkinson plus syndromes and specially CBD, which seems to be difficult in the first stages of the disease. Although the case was not neuropathologically verified (patient is still alive) the diagnosis seems to be almost true.

[Brain perfusion changes after head trauma assessed by cerebral SPECT with aminophylline test]. / Przeplyw mózgowy i reaktywnosc naczyniowa w odleglym okresie po urazie mózgowym badane przy pomocy tomografii emisyjnej SPECT z testem acetazolamidowym i aminofilinowym.

Tomographic cerebral blood flow SPECT scanning using Tc-99m-HMPAO was performed before and after i.v. administration of aminophylline in 36 patients between 6 months to 11 years after closed head trauma. Asymmetries of brain perfusion were found in 34 patients, normal rCBF distribution in 2 patients. Bi-focused asymmetries on the presumed line: trauma-contra coup were seen in 64% of the patients. In 70.4% of the patients with brain perfusion asymmetries the CT scan was normal. The aminophylline test improved the perfusion in 42% of the patients, indicating preserved perfusion reserve. Persistence of brain perfusion alterations after head trauma exists. Aminophylline test may be useful in the assessment of brain perfusion reserve in post-traumatic focus. Brain perfusion SPECT scans may be useful for medico-legal purposes.

[Tc-99m-MIBI and Tc-99m-HMPAO accumulation in primary and metastatic brain tumors assessed by brain SPECT]. / Akumulacja Tc-99m-MIBI i Tc-99m-HMPAO w pierwotnych i przerzutowych guzach mózgu ocenione tomografia emisyjna SPECT.

Imaging of intracranial lesions is frequently difficult in CT/MRI diagnosis. The introduction of the encephalic tracer MIBI seemed to be a promising alternative. We tried to compare the accumulation of Tc-99m-MIBI and HMPAO CT/MRI interpretationeally difficult intracranial lesions. We did SPECT scanning with single-head and triple-head gammacamera after i.v. administration of Tc-99m-HMPAO/MIBI. We performed HMPAO scanning in 34 patients, MIBI scanning in 41 pts. CT and MRI scanning was performed simultaneously. Histological diagnosis was done intra- and/or postoperatively. Increased accumulation of Tc-99m-MIBI was seen in 7/7 meningiomas (100%), 7/9 gliomas (77%), 10/15 brain metastases (66%), 2/4 unverified. In 5 cases with finally non-neoplastic diagnosis (stroke, a-v malformation) no MIBI accumulation was seen. Increased accumulation of HMPAO was seen in 3/11 gliomas, 2/7 meningiomas, 2/8 metastases and 2/4 unverified. In 4 cases non-neoplastic diagnosis was established. Our results seem to be less promising, than reported so far, particularly for heterogeneous accumulation of MIBI in metastatic tumours. The coupled Tc-99m-MIBI/HMPAO scanning may be useful in primary tumour diagnosis, particularly in meningiomas.