Copyright: © 2008 Elsevier Ltd. Published by Elsevier Ltd. Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders ...
Copyright: © 2008 Elsevier Ltd. Published by Elsevier Ltd. Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders ...
Correspondence to Dr M Braschinsky, Department of Neurology, University of Tartu, Puusepa 2, Tartu 51014, Estonia; mark.braschinsky{at}kliinikum.ee Background Hereditary spastic paraplegia (HSP) ...
Uncomplicated Strümpell's disease (Strümpell's familial spastic paraplegia) with a dominant mode of inheritance is recorded in six families. The neuropathological findings in two cases from these ...
Hereditary spastic paraplegia (HSP) is a very rare disorder with myriad of underlying genetic abnormalities. However, imaging can show typical findings regardless of underlying mutation. ‘Ear of the ...
Introduction Hereditary spastic paraplegias (HSPs) are uncommon but not rare neurodegenerative diseases. More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been ...
Methods A prospective short-term cohort study was designed in the outpatient clinic of the department of rehabilitation in a tertiary hospital. Patients with spastic paraplegia (N=5) were participated ...
We describe a family with pure X-linked hereditary spastic paraplegia (HSP) and report linkage to X-chromosome DNA probes. A 6-generation pedigree (K313) with 12 affected males is presented.
Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral ...
Patients suffered from epidermal hyperproliferation and increased keratinisation (ichthyosis). Hypomyelination of the central white matter explained spastic paraplegia and central nystagmus, while ...