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Familial cerebellar ataxia with hypogonadism

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Summary

A brother and sister with congenital cerebellar ataxia, anosmia, oligophrenia, hypogonadism and anomalies of amino acid distribution are reported. Ties between the different symptoms are difficult to establish. It seems to be a new syndrome rather than a new disease. Once more these associations emphasize the need for metabolic and biochemical research in heredodegenerative diseases. The evolution of the disease in these cases might make it possible to classify and locate it more accurately.

Zusammenfassung

Es wird über einen Patienten und dessen Schwester berichtet, bei welchen eine kongenitale cerebelläre Ataxie mit Oligophrenie, Anosmie, Hypogonadismus und Anomalien der Aminosäureverteilung vorlagen. Es ist schwierig, Zusammenhänge zwischen den einzelnen Merkmalen zu definieren. Es scheint sich eher um ein neues Syndrom als um eine neue Krankheit zu handeln. Aufgrund dieser Beobachtung wird die Notwendigkeit unterstrichen, bei heredodegenerativen Leiden biochemische Untersuchungen durchzuführen.

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Authors and Affiliations

  1. Department Neurology, Internal Medicine, Algemeen Ziekenhuis, Antwerp, Belgium

    A. Lowenthal, J. Bekaert, F. Van Dessel & J. van Hauwaert

Authors
  1. A. Lowenthal
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  2. J. Bekaert
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  3. F. Van Dessel
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  4. J. van Hauwaert
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Lowenthal, A., Bekaert, J., Van Dessel, F. et al. Familial cerebellar ataxia with hypogonadism. J. Neurol. 222, 75–80 (1979). https://doi.org/10.1007/BF00313001

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  • DOI: https://doi.org/10.1007/BF00313001

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