Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

INTRODUCTION: Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been reported with a more variable clinical phenotype in other countries. Cases have recently been described of muscular dystrophy, arthrogryposis, and cardiomyopathy due to SYNE1 mutations. OBJECTIVE: To describe clinical and molecular findings from 4 patients (3 men and one woman) diagnosed with ARCA1/SCAR8 from 3 Spanish families from different regions. MATERIAL AND METHODS: We describe the clinical, paraclinical, and genetic results from 4 patients diagnosed with ARCA1/SCAR8 at different Spanish neurology departments. RESULTS: Onset occurred in the third or fourth decade of life in all patients. After 15 years of progression, 3 patients presented pure cerebellar syndrome, similar to the Canadian patients; the fourth patient, with over 30 years' progression, presented vertical gaze palsy, pyramidal signs, and moderate cognitive impairment. In all patients, MRI studies showed cerebellar atrophy. The genetic study revealed distinct pathogenic SYNE1 mutations in each family. CONCLUSIONS: ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain. / Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España.

INTRODUCTION: Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been reported with a more variable clinical phenotype in other countries. Cases have recently been described of muscular dystrophy, arthrogryposis, and cardiomyopathy due to SYNE1 mutations. OBJECTIVE: To describe clinical and molecular findings from 4 patients (3 men and one woman) diagnosed with ARCA1/SCAR8 from 3 Spanish families from different regions. MATERIAL AND METHODS: We describe the clinical, paraclinical, and genetic results from 4 patients diagnosed with ARCA1/SCAR8 at different Spanish neurology departments. RESULTS: Onset occurred in the third or fourth decade of live in all patients. After 15 years of progression, 3 patients presented pure cerebellar syndrome, similar to the Canadian patients; the fourth patient, with over 30 years' progression, presented vertical gaze palsy, pyramidal signs, and moderate cognitive impairment. In all patients, MRI studies showed cerebellar atrophy. The genetic study revealed distinct pathogenic SYNE1 mutations in each family. CONCLUSIONS: ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity.

Síndrome de Coffin-Siris / Coffin­Siris syndrome

El presente estudio describe un caso de un niño de 6 años 9 meses de edad, atendido en el Centro de De-sarrollo Infantil de la Universidad de Cuenca (CEDIUC), con las características del Síndrome de Coffin ­Siris. El cariotipo 46xy, inv9 (p12q13), determinó por rasgos clíni-cos, el diagnóstico de Síndrome de Coffin ­Siris.Niño producto de cuarta gesta; antecedentes prena-tales: amenaza de aborto; antecedentes natales: nace a las 38.4 semanas de gestación con un diagnóstico de distrés respiratorio, por lo cual estuvo internado durante 15 días en la Unidad de Cuidados intensivos de la clínica Humanitaria; antecedentes post-natales: presentó retraso global en el desarrollo, además de otras afec-taciones como cardiopatía congénita, comunicación interventricular. Recibe tratamiento en varios Centros.El síndrome de Coffin-Siris es una enfermedad genética rara, con baja incidencia por lo que es poco estudiada, caracterizada por retardo mental, retraso en el desarro-llo psicomotor, facies toscas, pelo ralo e hipoplasia de la uña del quinto dedo.Se realizó una exhaustiva revisión bibliográfica, encon-trándose que el síndrome de Coffin-Siris es una enfer-medad genética poco frecuente; existen alrededor de 10 casos publicados en Latinoamérica; la etiología aún está en controversia, no ha podido definirse su localización cromosómica, pero algunos autores han plantea-do una posible herencia autosómica recesiva.

This study describes a case of a 6-years and 9-months-old child, who was attended at the Child Develop-ment Center of the University of Cuenca (CEDIUC), with the characteristics of the Coffin-Syndrome. The karyoty-pe 46xy, inv9 (p12q13), determined by clinical features the diagnosis of Coffin-Syndrome.Child product of the fourth pregnancy, prenatal history: threatened abortion; natal history: he born at 38.4 wee-ks of gestation with a diagnosis of respiratory distress, for this reason he was hospitalized for 15 days in the In-tensive Care unit of the Humanitarian clinic; post-natal history: he presented global developmental delay, in addition to other affections such as congenital heart di-sease and ventricular septal defect. He receives treat-ment in several centers.The Coffin-Siris syndrome is a rare genetic disease, with a low incidence and for this reason it is not studied enou-gh, it is characterized by mental retardation, delayed psychomotor development, coarse facies, thinning hair and hypoplasia of the fifth finger nail.A comprehensive bibliographic review was performed, and Coffin-Siris syndrome is a rare genetic disease with about 10 cases published in Latin America; the etiolo-gy is still controversial, its chromosomal location has not been defined, but some authors have raised a possible autosomal recessive inheritance.

Eficacia del uso de ozonoterapia, magnetismo y electroestimulación en pacientes con retinosis pigmentaria y glaucoma / Effectiveness of the ozone therapy, magnetism and electrostimulation in patients with pigmentary retinosis and glaucoma

Se realizó un estudio de evaluación de la eficacia terapéutica en 21 pacientes con retinosis pigmentaria asociada a glaucoma, atendidos en la Clínica de Retinosis Pigmentaria de Santiago de Cuba desde mayo del 2008 hasta igual mes del 2009. Los valores de agudeza visual, campo visual y tomografía del nervio óptico permitieron medir la eficacia de los tratamientos con ozono, magnetismo y electroestimulación, al comparar los resultados de las cuantificaciones visuales obtenidos al mes con los efectuados antes de iniciar la terapéutica. Prevalecieron el glaucoma crónico de ángulo abierto y la retinosis típica de herencia autosómica recesiva, así como los procedimientos consistentes en trabeculectomía y cirugía revitalizadora temporal, respectivamente, con mejorías o estabilidad del cuadro clinico, confirmadas a través de las modificaciones en los parámetros luego de aplicada la triple terapia. Se produjeron cambios favorables en la mayoría de los integrantes de la casuística.

A study of evaluation of the therapeutic effectiveness in 21 patients with pigmentary retinosis associated to glaucoma was carried out. They were assisted in the Pigmentary Retinosis Clinic of Santiago de Cuba from May, 2008 to May, 2009. The values of visual acuity, visual field and tomography of the optic nerve allowed to measure the effectiveness of the treatments with ozone, magnetism and electrostimulation, when comparing the results of the visual quantifications obtained within a month with those made before beginning the therapy. The chronic glaucoma of open angle and the typical retinosis of autosomal recessive inheritance prevailed, as well as procedures such as trabeculectomy and revitalizing temporary surgery, respectively, with improvements or stability of the clinical pattern, confirmed through the modifications in the parameters after having applied the triple therapy. Favorable changes took place in most of the members of the case material.

Eficacia del uso de ozonoterapia, magnetismo y electroestimulación en pacientes con retinosis pigmentaria y glaucoma / Effectiveness of the ozone therapy, magnetism and electrostimulation in patients with pigmentary retinosis and glaucoma

Se realizó un estudio de evaluación de la eficacia terapéutica en 21 pacientes con retinosis pigmentaria asociada a glaucoma, atendidos en la Clínica de Retinosis Pigmentaria de Santiago de Cuba desde mayo del 2008 hasta igual mes del 2009. Los valores de agudeza visual, campo visual y tomografía del nervio óptico permitieron medir la eficacia de los tratamientos con ozono, magnetismo y electroestimulación, al comparar los resultados de las cuantificaciones visuales obtenidos al mes con los efectuados antes de iniciar la terapéutica. Prevalecieron el glaucoma crónico de ángulo abierto y la retinosis típica de herencia autosómica recesiva, así como los procedimientos consistentes en trabeculectomía y cirugía revitalizadora temporal, respectivamente, con mejorías o estabilidad del cuadro clinico, confirmadas a través de las modificaciones en los parámetros luego de aplicada la triple terapia. Se produjeron cambios favorables en la mayoría de los integrantes de la casuística(AU)

A study of evaluation of the therapeutic effectiveness in 21 patients with pigmentary retinosis associated to glaucoma was carried out. They were assisted in the Pigmentary Retinosis Clinic of Santiago de Cuba from May, 2008 to May, 2009. The values of visual acuity, visual field and tomography of the optic nerve allowed to measure the effectiveness of the treatments with ozone, magnetism and electrostimulation, when comparing the results of the visual quantifications obtained within a month with those made before beginning the therapy. The chronic glaucoma of open angle and the typical retinosis of autosomal recessive inheritance prevailed, as well as procedures such as trabeculectomy and revitalizing temporary surgery, respectively, with improvements or stability of the clinical pattern, confirmed through the modifications in the parameters after having applied the triple therapy. Favorable changes took place in most of the members of the case material(AU)

Xeroderma pigmettoso de kaposi: presentacion de un csso / Xeroderma Pigmentosum: A case presentation

El xeroderma pigmentoso es una enfermedad cutánea de origen genético, con patrón de herencia autosómico recesivo, que se traduce por una hipersen-sibilidad marcada a las radiaciones ultravioletas, con aparición de lesiones semejantes a pecas, hiperpigmentación, queratosis, lesiones malignas y cica-trices atróficas limitadas en su inicio a las zonas expuestas a la luz solar, hasta posteriormente generalizarse. En este trabajo, se presenta un caso, reportado en Venezuela, de una paciente de 22 años, raza blanca, con antecedentes de haber comenzado hace 8 años con cambios de pigmentación de la piel y la aparición de nevos en regiones expuestas al sol; tiene dos miembros e la familia que padecen la enfermedad (hermano y abuelo). Por la rareza de esta patología y su comportamiento genético, se decide presentar este caso.

Xeroderma Pigmentosum is a cutaneous disease with a recessive autosomal inheritance. It traduces into a extreme sensitivity to ultraviolet light (UV), with the onset of dark lesions similar to freckles, hyperpigmentation, keratoses, skin cancer, atrophic scars on the exposed areas to the sunlight, that finally affect the whole skin.We present a case reported in Venezuela of a 22 year old patient, white skin, with history of 8 years of skin colour changes and the onset of nevus in the sunlight exposed areas. Two more member of her family suffer this symptoms ( her brother and grandfather). Because of the unusual of this pathology and it´s genetic behaviour, we decided to report this case.

Xeroderma Pigmentoso de Kaposi: presentación de un caso / Xeroderma Pigmentosum: a case presentation

El xeroderma pigmentoso es una enfermedad cutánea de origen genético, con patrón de herencia autosómico recesivo, que se traduce por una hipersen-sibilidad marcada a las radiaciones ultravioletas, con aparición de lesiones semejantes a pecas, hiperpigmentación, queratosis, lesiones malignas y cica-trices atróficas limitadas en su inicio a las zonas expuestas a la luz solar, hasta posteriormente generalizarse. En este trabajo, se presenta un caso, reportado en Venezuela, de una paciente de 22 años, raza blanca, con antecedentes de haber comenzado hace 8 años con cambios de pigmentación de la piel y la aparición de nevos en regiones expuestas al sol; tiene dos miembros e la familia que padecen la enfermedad (hermano y abuelo). Por la rareza de esta patología y su comportamiento genético, se decide presentar este caso(AU)

Xeroderma Pigmentosum is a cutaneous disease with a recessive autosomal inheritance. It traduces into a extreme sensitivity to ultraviolet light (UV), with the onset of dark lesions similar to freckles, hyperpigmentation, keratoses, skin cancer, atrophic scars on the exposed areas to the sunlight, that finally affect the whole skin.We present a case reported in Venezuela of a 22 year old patient, white skin, with history of 8 years of skin colour changes and the onset of nevus in the sunlight exposed areas. Two more member of her family suffer this symptoms ( her brother and grandfather). Because of the unusual of this pathology and it´s genetic behaviour, we decided to report this case)AU=