Lluis Barraquer i Roviralta and the origins of torsion dystonia
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《神经病学神经外科学杂志》
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Keywords: historical note; Lluis Barraquer I Roviralta; torsion dystonia
Idiopathic torsion dystonia has the synonyms of dysbasia lordotica progressiva, dystonia lenticularis, dystonia musculorum deformans, and progressive torsion spasm. Standard
references suggest the first description was that of Marcus Walter Schwalbe from Ziehen’s clinic in 1907.1 Hermann Oppenheim2 and Georg Theodor Ziehen3 in 1911 published simultaneous reports and in the same year the Polish neurologists Edward Flatau and Wladyslaw Sterling described the condition. Oppenheim had described four new cases in Jewish children and deserves credit for the term dystonia musculorum deformans and for describing its "dromedary gait".
But the grandson of Lluis Barraquer i Roviralta (1855–1928) has made a case4 for his prior claim. In 1897 "he related the characteristics signs, variably distorted posture and deformity of movements of the trunk, and limbs, with muscular spasms". However, he described them as athetosis not dystonia.
Lluis Barraquer i Roviralta was born in Barcelona in 1855. He was the seventh son of two lawyers from Sta. Cristina de Aro. He studied medicine in Barcelona in the Hospital of the Sta. Creu where, a year later, a clinic of electrotherapy was created for him because he was influenced by Guillaume B Duchenne’s work on electrical techniques. It was in the Catalan medical newspaper that he presented his paper, Contribution to the study of the atetosis.5 According to his grandson Lluis Barraquer, it was "a remarkable clinical observation under the influence of W Hammond, described as "double atetosis"".6
In 1906 Barraquer i Roviralta published the first observation of lipodistrofia cefalotorácica, known as "disease of Barraquer-Simons"; and in 1828 he published in Annals of the Hospital of the Sta. Creu an experimental study of the degeneration and regeneration of the peripheral nervous system. In 1921 he described the tonic foot reflex (Barraquer’s reflex).7 His personal life was marred by the death of his two wives and his son. He died of pneumonia in 1928.
Although the idiopathic torsion dystonia (ITD) phenotype may be determined in part by non-genetic factors or an allelic modifying gene,8 there are at least seven clinically distinct types of hereditary dystonia. Except for the X linked form, all are inherited as autosomal dominant traits with low penetrance. Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion (The DYT1 gene) is responsible for early-onset ITD in the Ashkenazi Jews and in certain non-Jewish families. It maps to chromosome 9q32-34 with an autosomal dominant transmission9 and an onset between ages 5 and 15 years. Cases with no family history are thought to result from reduced penetrance.
References
Schwalbe MW. Eine eigentümliche tonische krampfform mit hysterischen Symptomen. Inaugural Dissertation, Berlin, 1907.
Oppenheim H. über eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia musculorum deformans). Neurologisches Zentralblatt, Leipzig 1911;30:1090–1107.
Ziehen GT. Ein Fall von tonischer Torsionsneurose. Demonstrationen im Psychiatrischen Verein zu Berlin. Neurologisches Zentralblatt, Leipzig 1911;30:109–10.
Barraquer Bordas L. Sobre l’Escola de Neurologia de l’Hospital de la Sta. Creu i St. Pau amb especial atenció a la personalitat i a l’obra del seu fundador: Lluis Barraquer i Roviralta, Sant Pau 1980;1:85–93.
Barraquer Roviralta L. Contribución al estudio de la atetosis. Gac Med Catalana 1897;20:385–91.
Barraquer Bordas L, Giménez Roldán S. Idiopathic torsion dystonia as described by Barraquer-Roviralta. Adv Neurol 1988;50:665–6.
Barraquer Bordas L. Lluis Barraquer Roviralta, fundador de la neurología clínica espa?ola. El nacimiento de una escuela. Neurología 2002;17:33–39.
Fletcher NA, Harding AE, Marsden CD. Intrafamilial correlation in idiopathic torsion dystonia. Mov Disord 1991;6:310–14.
Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771–7.(J M S Pearce)
Keywords: historical note; Lluis Barraquer I Roviralta; torsion dystonia
Idiopathic torsion dystonia has the synonyms of dysbasia lordotica progressiva, dystonia lenticularis, dystonia musculorum deformans, and progressive torsion spasm. Standard
references suggest the first description was that of Marcus Walter Schwalbe from Ziehen’s clinic in 1907.1 Hermann Oppenheim2 and Georg Theodor Ziehen3 in 1911 published simultaneous reports and in the same year the Polish neurologists Edward Flatau and Wladyslaw Sterling described the condition. Oppenheim had described four new cases in Jewish children and deserves credit for the term dystonia musculorum deformans and for describing its "dromedary gait".
But the grandson of Lluis Barraquer i Roviralta (1855–1928) has made a case4 for his prior claim. In 1897 "he related the characteristics signs, variably distorted posture and deformity of movements of the trunk, and limbs, with muscular spasms". However, he described them as athetosis not dystonia.
Lluis Barraquer i Roviralta was born in Barcelona in 1855. He was the seventh son of two lawyers from Sta. Cristina de Aro. He studied medicine in Barcelona in the Hospital of the Sta. Creu where, a year later, a clinic of electrotherapy was created for him because he was influenced by Guillaume B Duchenne’s work on electrical techniques. It was in the Catalan medical newspaper that he presented his paper, Contribution to the study of the atetosis.5 According to his grandson Lluis Barraquer, it was "a remarkable clinical observation under the influence of W Hammond, described as "double atetosis"".6
In 1906 Barraquer i Roviralta published the first observation of lipodistrofia cefalotorácica, known as "disease of Barraquer-Simons"; and in 1828 he published in Annals of the Hospital of the Sta. Creu an experimental study of the degeneration and regeneration of the peripheral nervous system. In 1921 he described the tonic foot reflex (Barraquer’s reflex).7 His personal life was marred by the death of his two wives and his son. He died of pneumonia in 1928.
Although the idiopathic torsion dystonia (ITD) phenotype may be determined in part by non-genetic factors or an allelic modifying gene,8 there are at least seven clinically distinct types of hereditary dystonia. Except for the X linked form, all are inherited as autosomal dominant traits with low penetrance. Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion (The DYT1 gene) is responsible for early-onset ITD in the Ashkenazi Jews and in certain non-Jewish families. It maps to chromosome 9q32-34 with an autosomal dominant transmission9 and an onset between ages 5 and 15 years. Cases with no family history are thought to result from reduced penetrance.
References
Schwalbe MW. Eine eigentümliche tonische krampfform mit hysterischen Symptomen. Inaugural Dissertation, Berlin, 1907.
Oppenheim H. über eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia musculorum deformans). Neurologisches Zentralblatt, Leipzig 1911;30:1090–1107.
Ziehen GT. Ein Fall von tonischer Torsionsneurose. Demonstrationen im Psychiatrischen Verein zu Berlin. Neurologisches Zentralblatt, Leipzig 1911;30:109–10.
Barraquer Bordas L. Sobre l’Escola de Neurologia de l’Hospital de la Sta. Creu i St. Pau amb especial atenció a la personalitat i a l’obra del seu fundador: Lluis Barraquer i Roviralta, Sant Pau 1980;1:85–93.
Barraquer Roviralta L. Contribución al estudio de la atetosis. Gac Med Catalana 1897;20:385–91.
Barraquer Bordas L, Giménez Roldán S. Idiopathic torsion dystonia as described by Barraquer-Roviralta. Adv Neurol 1988;50:665–6.
Barraquer Bordas L. Lluis Barraquer Roviralta, fundador de la neurología clínica espa?ola. El nacimiento de una escuela. Neurología 2002;17:33–39.
Fletcher NA, Harding AE, Marsden CD. Intrafamilial correlation in idiopathic torsion dystonia. Mov Disord 1991;6:310–14.
Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771–7.(J M S Pearce)