BACKGROUND: Normal-pressure hydrocephalus (NPH) is characterized by gait disturbance, cognitive impairment, with or without urinary incontinence, enlarged ventricles with or without cerebral atrophy and normal cerebrospinal fluid pressure. METHODS: We report two sisters with NPH who lived together their entire lives and whose natural history might provide insights into genetic and environmental mechanisms underlying this disorder. Both patients were in their early seventies, single, had similar daily habits and hypertension. No other family members had NPH. RESULTS: They both underwent shunt placement and showed improvement documented by history and neuropsychological assessment. Both showed a delayed deterioration due to vasculopathy. Both patients were homozygous for the apolipoprotein E (ApoE) e3 allele on chromosome 19. No environmental factors that might have influenced the development of NPH were identified. CONCLUSION: Our report of two sisters with NPH may indicate the presence of genetic predisposition and further studies involving genetics and environmental factors are necessary to elucidate their role in the pathogenesis of NPH.
BACKGROUND: Normal-pressure hydrocephalus (NPH) is characterized by gait disturbance, cognitive impairment, with or without urinary incontinence, enlarged ventricles with or without cerebral atrophy and normal cerebrospinal fluid pressure. METHODS: We report two sisters with NPH who lived together their entire lives and whose natural history might provide insights into genetic and environmental mechanisms underlying this disorder. Both patients were in their early seventies, single, had similar daily habits and hypertension. No other family members had NPH. RESULTS: They both underwent shunt placement and showed improvement documented by history and neuropsychological assessment. Both showed a delayed deterioration due to vasculopathy. Both patients were homozygous for the apolipoprotein E (ApoE) e3 allele on chromosome 19. No environmental factors that might have influenced the development of NPH were identified. CONCLUSION: Our report of two sisters with NPH may indicate the presence of genetic predisposition and further studies involving genetics and environmental factors are necessary to elucidate their role in the pathogenesis of NPH.
Authors: Okko T Pyykkö; Miikka Lumela; Jaana Rummukainen; Ossi Nerg; Toni T Seppälä; Sanna-Kaisa Herukka; Anne M Koivisto; Irina Alafuzoff; Lakshman Puli; Sakari Savolainen; Hilkka Soininen; Juha E Jääskeläinen; Mikko Hiltunen; Henrik Zetterberg; Ville Leinonen Journal: PLoS One Date: 2014-03-17 Impact factor: 3.240
Authors: Ville E Korhonen; Seppo Helisalmi; Aleksi Jokinen; Ilari Jokinen; Juha-Matti Lehtola; Minna Oinas; Kimmo Lönnrot; Cecilia Avellan; Anna Kotkansalo; Janek Frantzen; Jaakko Rinne; Antti Ronkainen; Mikko Kauppinen; Antti Junkkari; Mikko Hiltunen; Hilkka Soininen; Mitja Kurki; Juha E Jääskeläinen; Anne M Koivisto; Hidenori Sato; Takeo Kato; Anne M Remes; Per Kristian Eide; Ville Leinonen Journal: Neurol Genet Date: 2018-12-03
Authors: Joel Räsänen; Joel Huovinen; Ville E Korhonen; Antti Junkkari; Sami Kastinen; Simo Komulainen; Minna Oinas; Cecilia Avellan; Janek Frantzen; Jaakko Rinne; Antti Ronkainen; Mikko Kauppinen; Kimmo Lönnrot; Markus Perola; Anne M Koivisto; Anne M Remes; Hilkka Soininen; Mikko Hiltunen; Seppo Helisalmi; Mitja I Kurki; Juha E Jääskeläinen; Ville Leinonen Journal: Fluids Barriers CNS Date: 2020-09-15