Progressive apraxia of speech (PAOS) is a neurodegenerative syndrome that affects oral communication, causing articulatory distortions, slow rhythm, sound or articulation errors that worsen over time. The study aims to investigate clinical, neuroimaging, genetic, and biochemical associations with molecular pathology in PAOS. Methods used include positron emission tomography to evaluate cortical dysfunction, genetic screening, immunohistochemistry to determine tissue damage in the cortex, and neurological evaluation including cognitive tests. Results and discussions from authors on findings related to different areas of the central nervous system affected in PAOS variants are presented, along with conclusions that integrated investigation methods helped understand apraxia in depth.

2. WHAT IS
PROGRESSIVE
APRAXIA OF
SPEECH?
It is a neurodegenerative syndrome
that affects oral communication. It
causes articulatory distortions, slow
rhythm, substitution, and / or sound
or articulation errors that start
insidiously and worsen over time.
XV Curso de fundamentos moleculares de la Medicina. (2018). ANALES
RANM, 135(135(02)). doi:10.32440/ar.2018.135.02.supl01

3. NEUROBIOLOGY
❖ To address the main aim to
better understand the
neurobiology and clinical
associations of PAOS types,
they will perform
longitudinal speech,
language, and
neurocognitive testing,
acoustic analyses,
neuroimaging, and autopsy
in a cohort of 47 new PAOS
patients (for 80 PAOS
patients total) and healthy
controls.
GENETICAL
❖ In many cases, the suspected cause is
due to a complex interaction between
a child’s genetic and brain makeup, and
their environmental influences.
❖ Today we understand that CAS may be
related to changes in single genes,
such as FOXP2, or they may be
associated with copy number
variations (CNVs). CNVs are essentially
small or large deletions or duplications
of sections of our chromosomes.

4. GENERAL OBJETIVE
“We aimed to investigate clinical, neuroimaging, genetic, and
biochemical associations with molecular pathology in PAOS.”

5. MÉTODOS
Utiliza un medicamento radiactivo (radiomarcador) para mostrar
actividad química. El radiomarcador se acumula en áreas del cuerpo
con niveles más elevados de actividad química, que a menudo
coinciden con áreas enfermas. En una TEP, estas áreas aparecen
como puntos brillantes. Se usó para evaluar la disfunción en las
regiones corticales
Tomografía por emisión de positrones (TEP)

6. Prueba de diagnóstico genético para determinar si una población o
paciente posee algún gen o alteración cromosómica causante de una
determinada enfermedad en ellos o en su descendencia.
Cribado genético

7. Se usan anticuerpos a fin de determinar si hay ciertos marcadores en
una muestra de tejido. Por lo general, los anticuerpos van unidos a una
enzima o un tinte fluorescente. Cuando los anticuerpos se unen al
marcador en la muestra de tejido, se activa la enzima o el tinte y se
observa el marcador al microscopio. Se usó para determinar el daño
tisular en la corteza de la población.
Inmunohistoquímica

8. Se usaron una serie de pruebas de tipo pregunta-respuesta para
evaluar ciertas habilidades mentales y físicas como la memoria, la
autopercepción, el habla, entre otras. Entre las pruebas usadas destaca
el Mini Examen del Estado Mental (MMSE).
Evaluación neurológica

9. RESULTADOS

13. DISCUSIÓN
AUTOR QUÉ DIJO EL AUTOR ESTÁ DE
ACUERDO...
Massey, L. A. et al It is difficult to know whether the
presence of cerebellar dentate and
midbrain atrophy in our PAOS cohort
represents a marker of PSP pathology
Sí.
Santos-Santos, M. A. et al. The finding of greater striatal and
thalamic atrophy in PAOS-CBD
compared to PAOS-PSP is consistent
with one previous study
Sí.
New, A. B. et al. ; resting-state fMRI studies have also
implicated the left premotor cortex
Sí.

14. CONCLUSIONS
1. The different and varied methods used together with the different modes of investigation and
integration of concepts were what helped us to understand apraxia in depth in the different necessary
areas, especially being something so controversial in medicine.
2. We understood the different variants of progressive apraxia of speech and how these correlate with
other adjacent neurodegenerative diseases.
3. Each of the variants of progressive apraxia of speech affects different areas of the central nervous
system and depending on the affection of these areas, we can understand the signs of each variant of
apraxia.

17. GRACIAS