Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

scientific article published on June 2017

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JNNP-2017-315796
P932PMC publication ID5537546
P698PubMed publication ID28572275

P50authorStanislav GroppaQ96243705
Nicholas W. WoodQ42592839
Viorica ChelbanQ55718189
P2093author name stringHenry Houlden
David S Lynch
James M Polke
Arianna Tucci
Hallgeir Jonvik
Liana Santos
P2860cites workThe prevalence of depression in hereditary spastic paraplegiaQ84135806
Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegiaQ89082611
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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersQ28116849
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaQ28141185
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegiaQ28145715
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamicsQ28216505
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.Q33680138
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.Q33713215
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Q34208328
Excess of rare, inherited truncating mutations in autismQ35665894
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 familiesQ37015214
A genome-wide linkage and association scan reveals novel loci for autismQ37410600
A role for white matter abnormalities in the pathophysiology of bipolar disorderQ37629209
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritanceQ38007254
Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanismsQ38222390
Sequence analysis of the AAA protein familyQ41615832
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegiaQ42354740
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegiaQ43076587
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial casesQ43146853
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cystsQ44907924
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic studyQ45185835
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutationQ45236123
Epidemiology of autism spectrum disorders in adults in the community in EnglandQ45837341
The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.Q48452708
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.Q48475824
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidenceQ48495069
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.Q48726091
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.Q52025922
Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder.Q52037328
Familial spastic paraplegia; its relation to mental and cardiac abnormalities.Q52166271
Hereditary spastic paraparesis and psychosis.Q53591708
Spastin mutations in sporadic adult-onset upper motor neuron syndromesQ57775042
Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegiaQ60689215
Hypomanic behaviour associated with familial spastic paraplegiaQ68012664
Interrater reliability of a modified Ashworth scale of muscle spasticityQ69735143
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegiaQ79226149
Hereditary spastic paraplegiaQ80682200
Hereditary spastic paraplegia, bipolar affective disorder and intellectual disability: a case reportQ80862121
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniquesQ83111381
P433issue8
P407language of work or nameEnglishQ1860
P921main subjectcomorbidityQ1414874
P304page(s)681-687
P577publication date2017-06-01
P1433published inJournal of Neurology, Neurosurgery and PsychiatryQ1599804
P1476titleTruncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
P478volume88

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cites work (P2860)
Q98770719Complicated SPG4 presenting with recurrent urinary tract infection
Q52319938Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis.
Q90303504Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse
Q51738014Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Q90598359Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Q60046943Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Q99633714Spastin depletion increases tubulin polyglutamylation and impairs kinesin-mediated neuronal transport, leading to working and associative memory deficits

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