[Diagnosis of dementia in the doctor's office]. / Einfache Tests erhärten die Diagnose.

Alzheimer's dementia can readily be diagnosed by the general practitioner on the basis of the anamnestic data provided by the patient's relatives and quantified by MMST and DemTect. The diagnosis should be confirmed by a neurologist. EEG and mapping methods reveal slowing of alpha activity, increased theta activity and reduced reactivity reflecting the postulated cholinergic deficit. Toxic effects caused by medication, and the course of the disease can be monitored by means of the EEG. Magnetic resonance tomography and cranial computed tomography are necessary.

Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations.

We report the results of a longitudinal study involving MRI and clinical follow-up in nine siblings from four families with Miyoshi myopathy (MM). All individuals carried pathogenic dysferlin gene (DYSF) mutations with six of them suffering from symptomatic disease and three being presymptomatic. In presymptomatic subjects, MRI was sensitive to detect alterations in muscle tissue years before disease onset. The first MRI alteration to disclose was evidence for myoedema in dorsal compartment muscles of the legs followed by fatty degeneration. Moreover, MRI changes anticipated the topography of subsequent clinical muscle involvement and progressed from distal to proximal dorsal leg muscles. In symptomatic subjects, MRI changes reflected the pattern and severity of clinical muscle involvement. MRI evidence, however, suggests that muscle involvement is much more prominent in early disease stages than clinically seen. Clinical follow-up up to 8 years made evident that MM onset occurs at a mean age of 18.4 years. The most prominent initial deficit was impaired tiptoe gait due to muscle plantarflexor dysfunction followed by impaired dorsiflexor function. Dorsal compartments were predominantly affected not only in distal but also in proximal leg muscles, and a more rapid progression was noticed during the early phase of the disease. Our data suggest that MRI is a helpful diagnostic tool for an early diagnosis of MM and other distal myopathies since it provides sensitive and topographic information about initial and even preclinical muscle involvement. This is of particular relevance in Miyoshi myopathy because distinct CK elevation is present long before its clinical onset and often misdiagnosed as "idiopathic".

FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.

Recently, mutations in the tau gene on chromosome 17 were found causative for autosomal dominantly inherited frontotemporal dementia and parkinsonism (FTDP-17). We describe a family carrying a missense mutation at nucleotide 1137 C --> T, resulting in the amino acid substitution P301S. Methods of investigations include clinical, electrophysiological, and imaging techniques. This kindred presents with a novel phenotype characterized by an early onset of rapidly progressive frontotemporal dementia and parkinsonism in combination with epileptic seizures. We define the dopaminergic deficits as being predominantly presynaptic by the use of single-photon emission computed tomography with a dopamine transporter ligand. The association of this early-onset phenotype with P301S mutation is not entirely consistent with current criteria for the diagnosis of frontotemporal dementias and may encourage the search for tau mutations in diseases similar but not identical to FTDP-17. Also, the change from proline to serine suggests that this mutation might contribute to tau hyperphosphorylation.

Magnetic resonance images of 91 children with different causes of short stature: pituitary size reflects growth hormone secretion.

UNLABELLED: In order to validate an association between pituitary size and severity of growth hormone deficiency (GHD) we evaluated the magnetic resonance images (MRI) of 107 children with different causes of short stature. Ninety-one MRIs were evaluable (64 male, 27 female; age: 9.1 +/- 3.9 years). The levels of insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3), and tests of GH stimulation and spontaneous secretion, led to the following subgroups: severe isolated GHD (SIGHD) (GH < 7 ng/ml) (n = 21); partial, isolated GHD (GH 7-10 ng/ml) (n = 22); multiple pituitary hormone deficiency (MPHD) (n = 13); neurosecretory dysfunction (n = 10); non-classifiable diagnosis (NC) (n = 13); idiopathic short stature (n = 9); and intra-uterine growth retardation (n = 3). Pituitary height (PHT) was measured and hypoplasia was assumed when PHT was < -2 SDS. An ectopic posterior pituitary with missing stalk and a hypoplastic anterior pituitary was present in 12 (57%) SIGHD cases, 12 (92%) MPHD cases and 1 patient from the NC group. An isolated hypoplastic anterior pituitary was observed in 15%-33% of the other groups. PHT (mm; mean, SD) in MPHD (1.7 +/- 0.5) was lower than in SIGHD (2.7 +/- 1.0, P < 0.05), with PHT of both groups being lower than in all the other groups (3.8 +/- 0.9, P < 0.0001). PHT SDS correlates with IGF-I SDS (r = 0.48, P < 0.0001), IGFBP-3 SDS (r = 0.46, P < 0.0001) and the highest peaks in tests of GH stimulation and GH spontaneous secretion (r = 0.36, P < 0.0001). In contrast to all the other groups, no correlation with age was observed in MPHD and SIGHD. Breech delivery was recorded in up to 26% of patients in all seven groups. Surprisingly, only 1 out of 23 patients with an ectopic posterior pituitary was born by breech delivery, suggesting that ectopia of the posterior lobe is not necessarily related to breech delivery. CONCLUSION: PHT is significantly correlated with GH secretion in several types of short stature. Patients with ectopic posterior pituitary, missing stalk and hypoplastic anterior pituitary either suffer from SIGHD or MPHD, and this anatomical defect is not necessarily related to breech delivery.

[Syringomyelia: correlation of magnetic resonance tomographic and clinical findings before and after surgery]. / Syringomyelie: Korrelation kernspintomographischer und klinischer Befunde vor und nach Operation.

A comparison between clinical and MRI findings in 20 patients with syringomyelia produced the following results: 1. The position and extent of the syrinx do not correspond with the clinical findings. 2. Successfully operated syringomyelia cavities collapse in their sagittal diameters. The resulting oval shape of the syrinx can be used to evaluate shunt insufficiency. 3. In almost half of the patients, the diameter of the spinal cord is within the 95th percentile of normal controls and would therefore not have been diagnosed by myelography. 4. Anomalies of the cranio-cervical junction were present in only one-third of the patients. This finding does not support the hypothesis that syringomyelia is caused by hydrodynamic factors only.