First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.

Zumrová A, Krepelová A, Kyncl M, Maríková T, Prosková M, Cíbochová R, Sebronová V, Komárek V.

Case Reports 2005; 26(3): 213-218 PubMed PMID: 15990724 Keywords: Adolescent, Adult, Basal Ganglia:pathology, Calcinosis:genetics, Child, Child, Preschool, Czech Republic, Diagnosis, Differential, Dyskinesias:genetics, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Mutation, Pantothenate Kinase-Associa.

: Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from .....

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Vol. 26 (3) 2005 Neuro endocrinology letters

First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.

Love promotes health.

The influence of smoking on plasma folate and lipoproteins in Alzheimer disease, mild cognitive impairment and depression.

Sheehan syndrome: clinical and laboratory evaluation of 20 cases.

Precocious puberty with congenital hypothyroidism.

Further structural analysis of GnRH complexes with metal ions.

Serum markers of inflammation and endothelial activation in children with obesity-related hypertension.

DNA double-helix binds regulatory peptides similarly to transcription factors.

Measurement of protein cytokines in tissue extracts by enzyme-linked immunosorbent assays: application to lipopolysaccharide-induced differential milieu of cytokines.

The entorhinal cortex regulates blood glucose level in response to microinjection of neostigmine into the hippocampus.

The quest of cavum septi pellucidi: obscure chance event discovery or the result of some encoded disturbance? Developmental cerebral dysplasias, cavum septi pellucidi and epilepsy: clinical, MRI and electrophysiological study.

Survivin expression in pituitary adenomas.

The atypical antipsychotics quetiapine, risperidone and ziprasidone do not increase insulin release in vitro.

Caloric restriction reduces cell loss and maintains estrogen receptor-alpha immunoreactivity in the pre-optic hypothalamus of female B6D2F1 mice.

Adrenal cortex -- the next biological clock?

The Neurobiology of Love.

Love and stress.

From the descriptive towards inferential statistics: hundred years since conception of the Student's t-distribution.