ABSTRACT
In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was a marked mood disorder, with prominent parkinsonism in one case. The neuropsychological study, as well as the neuroimaging and PET in the proband were concordant with a subcortical dementia. The cerebral pathology showed in this patient, aside from the classical lesions of Alzheimer disease, Lewy bodies in cortex and substantia nigra, and widespread subcortical neuritic lesions. This clinical pattern and pathology expands the clinical spectrum of familial Alzheimer's disease and compel to include mutations of PSEN1 gene in the genetic study of subcortical dementia.
Subject(s)
Dementia/genetics , Membrane Proteins/genetics , Mutation, Missense/genetics , Parkinsonian Disorders/genetics , Adult , Alanine/genetics , Amyloid beta-Peptides/blood , Brain/metabolism , Brain/pathology , DNA Mutational Analysis/methods , Dementia/complications , Dementia/metabolism , Family Health , Female , Humans , Immunohistochemistry/methods , Lewy Bodies , Magnetic Resonance Imaging, Cine/methods , Middle Aged , Nerve Tissue Proteins/metabolism , Neurofibrillary Tangles , Neuropsychological Tests , Parkinsonian Disorders/complications , Parkinsonian Disorders/metabolism , Peptide Fragments/blood , Postmortem Changes , Presenilin-1 , Synucleins , Valine/geneticsABSTRACT
INTRODUCTION: The lateral bulbar syndrome is a heterogeneous clinical condition. It is usually of vascular origin, due to a reduction in postero inferior cerebellar artery (PICA) and vertebral artery blood flow. CASE REPORT: We studied two cases: a woman aged 59 years and a man of 49 years, who were admitted with Wallenberg s syndrome. The diagnosis was confirmed on magnetic resonance which showed an ischaemic lesion in the lateral bulbar region ipsilateral to the clinical signs. On angioresonance there was lack of filling of the vertebral artery involved, and the PICA was not seen. CONCLUSIONS: At the present time, the most sensitive technique available for the diagnosis of the lateral bulbar syndrome is cranial magnetic resonance (it even appears to be useful for making aetiopathogenic hypotheses). Similarly, arteriography is widely used for assessing disorders of the posterior cerebral circulation, although it is not without risk. According to recent studies, angioresonance gives sensitivity and specificity of over 75% when used to assess anomalies of the vertebral and basilar arteries. So our observations corroborate the finding that angioresonance is a very sensitive, specific investigation for showing disorders of the vertebral arteries and PICA, which spares patients the morbidity associated with conventional arteriography.
Subject(s)
Lateral Medullary Syndrome/complications , Magnetic Resonance Angiography/methods , Thrombosis/complications , Thrombosis/pathology , Vertebral Artery/pathology , Female , Horner Syndrome/complications , Horner Syndrome/diagnosis , Humans , Lateral Medullary Syndrome/diagnosis , Male , Middle AgedABSTRACT
Introducción. El síndrome bulbar lateral es un cuadro clínico heterogéneo, habitualmente de origen vascular, caracterizado por disminución del flujo en la arteria cerebelosa posteroinferior (ACPI) y, eventualmente, de la arteria vertebral. Casos clínicos. Estudiamos dos casos, mujer de 59 años y varón de 49 años que ingresan con un síndrome de Wallenberg. La resonancia magnética confirma el diagnóstico mostrando una lesión isquémica en región bulbar lateral ipsilateral a la clínica. En la angiorresonancia se observa una falta de relleno de la arteria vertebral responsable, sin que se visualice la ACPI. Conclusiones. En la actualidad, la técnica más sensible para el diagnóstico del síndrome bulbar lateral es la resonancia magnética craneal (incluso parece ser útil para formular hipótesis etiopatogénicas). Del mismo modo, la arteriografía se utiliza ampliamente para evaluar trastornos de la circulación cerebral posterior, aun sin estar exenta de riesgos. La angiorresonancia demuestra, según los últimos estudios, una sensibilidad y una especificidad superiores al 75 por ciento en la valoración de anomalías en las arterias vertebrales y basilar. De esta forma, nuestra observación corrobora que la angioresonancia es una prueba muy sensible y específica para la demostración de patología en las arterias vertebrales y la ACPI, ahorrando al paciente la morbilidad que conlleva la arteriografía convencional (AU)
