Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.
PMID 30962061 | DOI 10.1016/j.jocn.2019.03.067 · Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2019
OBJECTIVE: Hereditary spastic paraplegia type-IV (HSP4) is the most common of the autosomal-dominant HSPs. Though urinary dysfunction is a frequent phenotypic feature, long-term pollakisuria as the initial manifestation of HSP4 has not been reported. CASE REPORT: The patient is a 56yo female with an uneventful history until age 46y, when she developed pollakisuria. After another 6y she developed a coordination disorder, recognized as difficulties with running and climbing stairs. Since 6 m prior to presentation, she recognized mild dysphagia. The further history was positive for strabismus, varicosity, hepatopathy, thiamin-deficiency, niacin-deficiency, lumbago, cutaneous borelliosis, abortive psoriasis, lumbar spondylosis, osteochondrosis L5/S1, and HLA-B27-positive rheumatoid arthritis. Clinical exam revealed mild weakness for left foot extension (M5-), a right subclonic patella tendon reflex, and mildly impaired left hook transition. Nerve conduction studies revealed subclinical polyneuropathy. Ophthalmologic investigations, and MRI of the brain and spinal cord were non-informative. Genetic work-up revealed the novel variant c.683-2A > C in the SPAST gene. The family history was positive for HSP in her mother and sister. Pure HSP4 was diagnosed. CONCLUSIONS: Pure HSP4 may manifest at onset with year-long pollakisuria exclusively. HSP4 may take a mild course over years, allowing the patient to do sports and to practice a demanding job.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SPAST | “Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.” | 0.98 | hgnc_dict_v1 |
| phenotype | rheumatoid arthritis | “The further history was positive for strabismus, varicosity, hepatopathy, thiamin-deficiency, niacin-deficiency, lumbago, cutaneous borelliosis, abortive psoriasis, lumbar spondylosis, osteochondrosis L5/S1, and HLA-B27-positive rheumatoid arthritis.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.683-2A>C | “Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.” | 0.95 | hgvs_regex_v1 |