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 ...

kliinikum.ee Background Hereditary spastic paraplegia (HSP) comprises a group of rare neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the legs. Neurogenic ...

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 ...

We had every gene in her body mapped, and at 14 months old, Tallulah was officially diagnosed with Hereditary Spastic Paraplegia Type 56 (SPG56) - an incurable brain disease so rare no one else in ...

Patients with spastic paraplegia (N=5) were participated, including spinal cord tumour (N=2), cervical myelitis (N=1), hereditary spastic paraplegia (NIPA1 mutation; N=1) and spinal cord injury (N=1).

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 ...

More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical features, including progressive spasticity in the lower limbs, ...

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.

At 12 years, the patient was a wheelchair user with spastic paraplegia of lower limbs, discrete signs of ataxia (dysmetria, slowed speech and nystagmus) and pale optic discs. He complained of dryness ...