Maeve Bradley, Aicha Kalfat, Richard A Walsh, Tim Lynch, Conor Fearon, Henry Houlden
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Hereditary spastic paraplegia: a practical approach.
Hereditary spastic paraplegia (HSP) comprises a clinically and genetically diverse group of inherited neurodegenerative disorders unified by slowly progressive, usually symmetrical lower-limb spasticity secondary to corticospinal tract degeneration. For practising neurologists, the first step is recognising when a presentation is consistent with HSP and when it is not, and then carefully excluding treatable causes. We outline a pragmatic approach to assessing HSP, highlighting the broad clinical spectrum, 'red flags' that should trigger re-evaluation and the common acquired and genetic mimics. We summarise the relevant clinical and supportive investigations that can narrow the differential diagnosis. We also discuss the strengths and limitations of contemporary genetic testing. Finally, we focus on practical management: multidisciplinary care, spasticity treatments, and proactive recognition and management of additional symptoms outside of spasticity.
期刊介绍:
The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.