The neurological components of Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a genetic condition affecting 1 in 4 million live births. HGPS is often described as a segmental premature aging syndrome meaning that not all features of aging are observed. For example, individual with HGPS do not experience declines in neurocognitive function (Shah, 2017). Children with HGPS appear typical at birth, but noticeable delays in growth begin to appear between the ages of 9 and 24 months of age. HGPS is a “sporadic autosomal dominant mutation,” caused by a genetic defect on the LNMA. This mutation results in the abnormal production of the Lamin A protein called progerin (National Organization for Rare Diseases, 2014). In children with HGPS, cells within the blood vessels, skin, and bones overproduce the Lamin A protein, which leads to build up of progerin in the cells. The buildup of progerin, in the cells, results in rapid aging and early onset of progressive diseases (Progeria Research Foundation, 2010).
When HGPS is suspected, a physician will conduct a physical exam and refer the child for genetic testing to confirm the diagnosis. Visible characteristics …show more content…
However, one study has been conducted to investigate if Farnesyltransferase inhibitor, (FTI) lonafarnib can decrease the incidence of neurologic symptoms. Lonafarnib has been proven to cause weight gain and improvements in the cardiovascular and skeletal systems of patients with HGPS. Data from the earlier study was used to develop a retrospective study specifically focused on improving neurologic outcomes with the help of lonafarnib. 26 patients with HGPS were treated with FTIs for 2 years. The occurrence of headaches, seizures and strokes were measured before and after the treatment (Ullrich, Kieran, Miller, Gordon, Cho, Silvera, Giobbie-Hurder, Neuberg, & Kleinman,
Hutchinson-Gilford Progeria Syndrome (HGPS) is a genetic condition affecting 1 in 4 million live births. HGPS is often described as a segmental premature aging syndrome meaning that not all features of aging are observed. For example, individual with HGPS do not experience declines in neurocognitive function (Shah, 2017). Children with HGPS appear typical at birth, but noticeable delays in growth begin to appear between the ages of 9 and 24 months of age. HGPS is a “sporadic autosomal dominant mutation,” caused by a genetic defect on the LNMA. This mutation results in the abnormal production of the Lamin A protein called progerin (National Organization for Rare Diseases, 2014). In children with HGPS, cells within the blood vessels, skin, and bones overproduce the Lamin A protein, which leads to build up of progerin in the cells. The buildup of progerin, in the cells, results in rapid aging and early onset of progressive diseases (Progeria Research Foundation, 2010).
When HGPS is suspected, a physician will conduct a physical exam and refer the child for genetic testing to confirm the diagnosis. Visible characteristics …show more content…
However, one study has been conducted to investigate if Farnesyltransferase inhibitor, (FTI) lonafarnib can decrease the incidence of neurologic symptoms. Lonafarnib has been proven to cause weight gain and improvements in the cardiovascular and skeletal systems of patients with HGPS. Data from the earlier study was used to develop a retrospective study specifically focused on improving neurologic outcomes with the help of lonafarnib. 26 patients with HGPS were treated with FTIs for 2 years. The occurrence of headaches, seizures and strokes were measured before and after the treatment (Ullrich, Kieran, Miller, Gordon, Cho, Silvera, Giobbie-Hurder, Neuberg, & Kleinman,