Spastic Paraplegia 23

Last update 01 Nov 2024

Basic Info

Synonyms

Abdallat Davis Farrage syndrome, Abdallat syndrome, Autosomal recessive spastic paraplegia type 23

+ [19]

Introduction

A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

100 Clinical Results associated with Spastic Paraplegia 23

100 Translational Medicine associated with Spastic Paraplegia 23

0 Patents (Medical) associated with Spastic Paraplegia 23

Literatures (Medical) associated with Spastic Paraplegia 23

01 Dec 2021·Molecular and Cellular Pediatrics

Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis

Article

Author: Reutter, Heiko ; Jurga, Szymon ; Thiele, Holger ; Vidic, Clara ; Hilger, Alina C ; Zaniew, Marcin

AbstractIntroductionDSTYK encodes dual serine/threonine and tyrosine protein kinase. DSTYK has been associated with autosomal-dominant congenital anomalies of the kidney and urinary tract and with autosomal-recessive hereditary spastic paraplegia type 23. Here, we report a father and his two dizygotic twin sons carrying a novel heterozygous missense variant in DSTYK, presenting with early onset lower urinary tract dysfunction due to dysfunctional voiding. Moreover, in the later course of the disease, both sons presented with bilateral spasticity in their lower limbs, brisk reflexes, and absence seizures.Materials and methodsExome sequencing in the affected father and his affected sons was performed. The sons presented clinically with urinary hesitancy, dysfunctional voiding, and night incontinence till adolescence, while the father reported difficulty in voiding. In the sons, cystoscopy excluded urethral valves and revealed hypertrophy of the bladder neck and trabeculated bladder. Additionally, both sons were diagnosed with absence epilepsy in early childhood. Filtering of exome data focused on rare (MAF < 0.01%), autosomal-dominant variants, predicted to be deleterious, residing in highly conserved regions of the exome.ResultsExome analysis identified a novel, heterozygous missense variant (c.271C>A (p.Leu91Met)) in DSTYK segregating with the disease. In silico prediction analyses uniformly rated the variant to be deleterious suggesting the variant to be disease-causing in the family.ConclusionTo the best of our knowledge, this is the first report of early onset dysfunctional voiding, seizures, and bilateral spasticity of the lower limbs associated with a novel heterozygous dominant missense variant in DSTYK.

01 Apr 2003·Clinical Dysmorphology

Vitiligo-spasticity syndrome: new case

Letter

Author: Bamforth, J.S.

Vitiligo-spastic syndrome is a very characteristic syndrome that is both clinically and genetically heterogeneous. Most cases have been reported previously in Arab populations. A case in a patient of North European white extraction is reported and compared with previously reported cases.

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Spastic Paraplegia 23

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