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.

Brain SPECT and Neuropsychological Examination in Patients with a History of Minor Craniocerebral Trauma Nine Years after Head Injury.

Focal perfusion deficits disclosed by single photon emission computerized tomography (SPECT) show more diffuse brain dysfunction than computed tomography (CT) examinations in case of head trauma. The aim of the study was to evaluate SPECT as an enhancing and complementary diagnostic method in patients after minor craniocerebral trauma (mCCT) and establish a possible correlation between clinical symptoms and disturbances of cerebral blood flow (CBF). SPECT examination and neuropsychological assessment was performed in seven patients about nine years after head injury, scoring 13-15 points on the Glasgow COMA SCALE and without evidence of structural brain damage. Neuropsychological assessment addressed global cognitive status, verbal and visual memory, working memory, object and space perception, executive function, self-assessment of memory, mood and health-related complaints. A direct relationship was shown between mCCT and the observed CBF disorders, and between the CBF disorders and cognitive dysfunction. Because of its sensitivity, SPECT, should be regarded as a method complementary to CT in mCCT.

Diffuse Axonal Injury: a Brief Review and Examples of the Use of Neurofunctional Imaging (Tc-99m HMPAO SPECT) in Diagnosis and Follow-up.

Diffuse axonal injury (DAI) is a growing problem nowadays as its social and economic costs amount to millions of dollars. DAI is now thought to be the predominant mechanism of injury in almost half the cases of traumatic brain injury connected with loss of consciousness. Computed tomography and magnetic resonance imaging are substantial techniques to diagnose DAI but they have their limitations. Neuropsychological tests used in follow-up disclose persistent disabilities in patients with total regression of CT and MRI changes. In those situations SPECT is appropriate as it shows lesions not disclosed by other imaging techniques. This article describes two cases in which usefulness of SPECT has been proved. A brief review of DAI has been included.