Results 71 to 80 of about 14,746 (177)

Using the International Classification of Functioning, Disability and Health as a tool for analysis of the effect of physical therapy on spasticity in HAM/TSP patients

Revista da Sociedade Brasileira de Medicina Tropical, 2015
INTRODUCTION: This study aimed to evaluate spasticity in human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients before and after physical therapy using the International Classification of Functioning ...
Luana Rego Rodrigues, Luzielma Macedo Glória, Mayara do Socorro Brito dos Santos, Rita Medeiros, George Alberto da Silva Dias, Denise da Silva Pinto   +5 more
doaj   +1 more source

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series [PDF]

, 2016
Background - The causes of phenotypic heterogeneity in familial Alzheimer’s disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in ...
Adamson, G, Beck, J, Chavez-Gutierrez, L, de Strooper, B, Fox, NC, Guerreiro, R, Holton, J, Kenny, J, Lashley, T, Liang, Y, Mead, S, Nicholas, JM, Revesz, T, Rossor, MN, Ryan, NS, Weston, PSJ   +15 more
core  

HTLV-I negative tropical spastic paraparesis: a scientific challenge Paraparesia espástica tropical HTLV-I negativa: um desafio científico

Arquivos de Neuro-Psiquiatria, 2001
We reviewed the historical, clinical and etiological aspects of the progressive chronic spastic myelopathies of unknown etiology, disserting on the clinical similarities between HTLV-I seropositive and seronegative tropical spastic paraparesis (TSP), as ...
Carlos Mauricio De Castro-Costa, Herwig Carton, Terezinha J. T. Santos   +2 more
doaj   +1 more source

Overlapping Aicardi–Goutières and Singleton–Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis

Immunological Medicine
Aicardi–Goutières syndrome (AGS) and Singleton–Merten syndrome (SMS) are associated with heterozygous gain-of-function mutations in the interferon induced with helicase C domain 1 (IFIH1) gene.
Susumu Yamazaki, Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Ryo Ogino, Takayuki Miyamoto, Kazushi Izawa, Yuko Segawa, Jun Kakizaki, Masaaki Mori, Masaki Shimizu   +10 more
doaj   +1 more source

ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

Annals of the Child Neurology Society
Objective We present the cases of two sisters, both harboring the same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor deficits, and ...
Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi   +6 more
doaj   +1 more source

Hepatic myelopathy neurological complication of chronic liver disease: two case reports

Journal of Medical Case Reports
Background Hepatic myelopathy is a very rare neurological complication of chronic liver disease. Patients habitually present with progressive pure motor spastic paraparesis.
Mariem Mhiri, Mehdi Ben Abdelwahed, Mohamed Amine Dhiflaoui, Rihab Ben Dhia, Narjes Gouta, Imen Jemni, Raoua Baklouti, Mejda Zakhama, Arwa Gueddiche, Mohamed Hichem Loghmari, Nabil Ben Chaabene, Leila Safer, Mahbouba Frih-Ayed   +12 more
doaj   +1 more source

RNASEH2B Pathogenic Mutation Presenting with Pure, Apparently Non-Progressive Hereditary Spastic Paraparesis. [PDF]

Ann Indian Acad Neurol, 2023
Agarwal A, Garg D, Garg A, Srivastava AK.   +3 more
europepmc   +1 more source

A Rare Patient with Hereditary Spastic Paraparesis with Parkinsonism. [PDF]

Asian J Neurosurg, 2023
Onder H, Comoglu S.
europepmc   +1 more source

"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76. [PDF]

Mov Disord Clin Pract, 2023
Agarwal A, Oinam R, Goel V, Sharma P, Faruq M, Garg A, Srivastava AK.   +6 more
europepmc   +1 more source

Tropical spastic paraparesis / HTLV-associated myelopathy (TSP/HAM). Case reports in Colombian pacific coast

Revista de la Facultad de Ciencias de la Salud, 2013
Hospital-ship San Raffael of the Italian-Colombian Foundation of Monte Tabor develops a social and humanitarian function in the departments of Colombian pacific coast under the support of the Facultad de Ciencias de la Salud of University del Cauca.
Alonso Arturo Ruíz-Perea, Luis Eduardo Ramírez-Bejarano   +1 more
doaj   +2 more sources