Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most common form of autosomal dominant hereditary spastic paraplegia. It is caused by mutations in the SPG4 gene encoding spastin, a member of the AAA protein family of ATPases. In this study the spastin gene of HSP patients from 161 apparently unrelated families in Germany was analyzed. The authors identified mutations in 27 out of the 161 HSP families; 23 of these mutations have not been described before and only one mutation was found in two families. Among the detected mutations are 14 frameshift, four nonsense, and four missense mutations, one large deletion spanning several exons, as well as four mutations that affect splicing. Most of the novel mutations are located in the conserved AAA cassette-encoding region of the spastin gene. The relative frequency of spastin gene mutations in an unselected group of German HSP patients is approximately 17%. Frameshift mutations account for the majority of SPG4 mutations in this population. The proportion of splice mutations is considerably lower than reported elsewhere.

Adaptive frequency decomposition of EEG with subsequent expert system analysis.

We present a hybrid system for automatic analysis of clinical routine EEG, comprising a spectral analysis and an expert system. EEG raw data are transformed into the time-frequency domain by the so-called adaptive frequency decomposition. The resulting frequency components are converted into pseudo-linguistic facts via fuzzification. Finally, an expert system applies symbolic rules formulated by the neurologist to evaluate the extracted EEG features. The system detects artefacts, describes alpha rhythm by frequency, amplitude, and stability and after artefact rejection detects pathologic slow activity. All results are displayed as linguistic terms, numerical values and maps of temporal extent, giving an overview about the clinical routine EEG.

Color-coded duplex ultrasonography of the origin of the vertebral artery: normal values of flow velocities.

The introduction of color-coded duplex ultrasonography has improved the ease of performing ultrasound investigations of the vertebral arteries. So far, normal values of flow velocities have been reported only for the intertransverse region of the vertebral artery (V2 segments). Atherosclerotic disease at the origin of the vertebral arteries (V0 segment) is frequent and is one of the risk factors for vertebrobasilar ischemic disease. Normal values of flow velocities of the vertebral artery origin are needed to assess pathologic findings, such as vertebral artery origin stenosis or dissection. The aim of this study was to describe the normal flow velocities of vertebral artery origin (V0 segment) and the pre- (V1 segment) and intertransverse (V2 segment) part in 50 age-matched neurologic patients (mean age 54) without ischemic cerebral disease. The V0 segment could be visualized in 46 persons (92%) on the right side and in 43 (86%) on the left. The peak systolic blood velocity ranged from 30 to 100 cm/s (mean 63.6 +/- 17.5 cm/s), and end-diastolic blood velocity ranged from 10 to 35 cm/s (mean 16.1 +/- 5.1 cm/s). Analysis of side-to-side differences showed no significant differences of flow velocities in all subjects. It is concluded that color duplex ultrasonography is a feasible method to insonate the origin of the vertebral artery, and that nomogram data could be established. It is suggested that color-coded duplex ultrasonography of the vertebral artery origin should be performed in all patients with clinical symptoms or signs of vertebrobasilar ischemic disease. Nevertheless, further studies are needed to determine the normal and pathologic values of flow velocities of the vertebral artery origin and their reproducibility.