![]() ![]() II-7 began to show gait impairment, urinary incontinence, and cognitive impairment (MMSE 24/30) at age 44. In addition, 2 of her brothers (II-4 and II-7) also showed 3 major symptoms of NPH. She died of pneumonia at 60 years of age. 6 She also had recurrent respiratory tract infection and chronic sinusitis but did not show bronchiectasis or visceral inversions. She was diagnosed with NPH, in accordance with the reported criteria. MRI of her brain showed significant dilation of the third, lateral ventricle and Sylvian fissure and high-convexity tightness ( figure 1, C–E). Her symptoms improved temporarily after a tap test (72 hours after tap test: TUG 25 seconds, MMSE 25/30, FAB 9/18). Her CSF opening pressure was 150 mm H 2O, CSF total protein 38 mg/dL, CSF glucose 64 mg/dL, and CSF chlorine 128 mEq/L. She was hospitalized owing to major symptoms including gait impairment (decreased step height, length, and cadence Timed Up and Go test : 33 seconds), cognitive impairment (Mini-Mental State Examination : 24/30, Frontal Assessment Battery at bedside: 3/18), and urinary incontinence. The proband was a 55-year-old woman (II-1, figure 1A). We show that mutation in CFAP43 elicits abnormalities in cilia and leads to NPH.Ĭlinical presentation of a Japanese family with multiple patients with NPH Next, we generated Cfap43 knockout mice, and the model showed clear dilation of the lateral and third ventricles of the brain similar to human NPH. To identify genes related to NPH, we performed WES on one Japanese family with several members with NPH and identified a loss-of-function variant in the CFAP43 gene linked to this disease in this family. 4, 5 However, to our knowledge, no studies have explored genes causative of NPH using WES. Whole-exome sequencing (WES) is a powerful tool to detect genes causative of single-gene neurodegenerative diseases. 3 Although family studies have suggested that genetic factors underlie the development of NPH, the genetic risk factors of NPH have remained unclear. 1, 2 In 2011, a large family featuring individuals with NPH through 3 generations was reported. Normal-pressure hydrocephalus (NPH) usually occurs sporadically, but several studies have shown its familial aggregation. ![]()
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