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The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.
Meyyazhagan A, Kuchi Bhotla H, Pappuswamy M, Orlacchio A. Meyyazhagan A, et al. Int J Mol Sci. 2022 Jul 11;23(14):7665. doi: 10.3390/ijms23147665. Int J Mol Sci. 2022. PMID: 35887006 Free PMC article. Review.
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various bioche …
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditar …
Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.
Wali G, Berkovsky S, Whiten DR, Mackay-Sim A, Sue CM. Wali G, et al. Sci Rep. 2021 Aug 17;11(1):16635. doi: 10.1038/s41598-021-95995-4. Sci Rep. 2021. PMID: 34404843 Free PMC article.
In patient-derived fibroblasts we quantified 124 morphological features in 100,000 cells from 15 people with two genotypes (SPAST and SPG7) of Hereditary Spastic Paraplegia (HSP) and matched controls. ...
In patient-derived fibroblasts we quantified 124 morphological features in 100,000 cells from 15 people with two genotypes (SPAST and …
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 Free PMC article.
METHODS: Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish MND Register. Long survival was defined as > 8 years from diagnosis. 11 phenotypic variables were analysed. ...Significant variants in F …
METHODS: Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish …
Successful treatment of infantile oxysterol 7alpha-hydroxylase deficiency with oral chenodeoxycholic acid.
Tang YP, Gong JY, Setchell KDR, Zhang W, Zhao J, Wang JS. Tang YP, et al. BMC Gastroenterol. 2021 Apr 13;21(1):163. doi: 10.1186/s12876-021-01749-x. BMC Gastroenterol. 2021. PMID: 33849447 Free PMC article.
BACKGROUND: Deficiency of oxysterol 7alpha-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver dis …
BACKGROUND: Deficiency of oxysterol 7alpha-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic chole …
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. Paisan-Ruiz C, et al. Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20. Eur J Neurol. 2008. PMID: 18717728 Free PMC article.
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex hereditary spastic paraplegia classified as SPG11. ...
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usual …
Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.
Zaghloul A, Manoukian D, Barrett MC, Geronta I, Maizen C. Zaghloul A, et al. J Pediatr Orthop. 2021 Oct 1;41(9):559-565. doi: 10.1097/BPO.0000000000001942. J Pediatr Orthop. 2021. PMID: 34387232
RESULTS: The average age at the time of operation was 122.1 years. There were 15 males and 4 females. Diagnoses included cerebral palsy (n=16), Cornelia de Lange syndrome (n=1), hereditary spastic paraplegia type 56 (n=1) and fructose-1,6 bisphosphonat …
RESULTS: The average age at the time of operation was 122.1 years. There were 15 males and 4 females. Diagnoses included cerebral pal …
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F. Travaglini L, et al. Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24. Neurogenetics. 2018. PMID: 29691679
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. ...
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identifie …