Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

scientific article published on 15 March 2011

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.33911
P698PubMed publication ID21412977

P50authorGael NicolasQ55712290
Didier HannequinQ32424966
Didier DevysQ39066461
P2093author name stringAlice Goldenberg
David Maltête
Lucie Guyant-Maréchal
Catherine Hervé
P2860cites workSpeech and language delay are early manifestations of juvenile-onset Huntington diseaseQ45302788
Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.Q45303713
Longitudinal analysis of regional grey matter loss in Huntington disease: effects of the length of the expanded CAG repeat.Q45305612
Chorea Huntington: a rare case with childhood onsetQ45306295
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington diseaseQ57628958
Huntington's disease geneticsQ22305906
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.Q27860836
Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's diseaseQ28296368
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patientsQ31115405
Juvenile onset Huntington's disease--clinical and research perspectives.Q34091006
Normal and mutant HTT interact to affect clinical severity and progression in Huntington diseaseQ35004805
Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?Q36308082
Early onset Huntington disease: a neuronal degeneration syndromeQ42466838
In vivo evidence of cerebellar atrophy and cerebral white matter loss in Huntington diseaseQ42468402
The gender effect in juvenile Huntington disease patients of Italian originQ44750677
Acute hepatitis B infection after vaccinationQ44876803
XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's diseaseQ45289311
Highly disabling cerebellar presentation in Huntington disease.Q45289403
Unusual early-onset Huntingtons diseaseQ45289674
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.Q45290342
MR-spectroscopic findings in juvenile-onset Huntington's diseaseQ45290725
A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomesQ45290738
Excessive blinking as an initial manifestation of juvenile Huntington's diseaseQ45290961
Weight loss in Huntington disease increases with higher CAG repeat numberQ45291411
Severity of cognitive impairment in juvenile and late-onset Huntington diseaseQ45296081
Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeatQ45297554
Huntington disease in children: genotype-phenotype correlationQ45301605
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectHuntington's diseaseQ190564
juvenile Huntington diseaseQ55345967
P304page(s)815-818
P577publication date2011-03-15
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleJuvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume
P478volume155A

Reverse relations

cites work (P2860)
Q30577737A two years longitudinal study of a transgenic Huntington disease monkey
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Q45288695Chorea in an 83-year-old woman: don't forget Huntington's disease
Q45291809Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene
Q38035863Corticostriatal dysfunction and glutamate transporter 1 (GLT1) in Huntington's disease: interactions between neurons and astrocytes
Q36007592Disruption of Purkinje cell function prior to huntingtin accumulation and cell loss in an animal model of Huntington disease
Q55496089Early alteration of epigenetic-related transcription in Huntington's disease mouse models.
Q38805973Huntington disease: a single-gene degenerative disorder of the striatum
Q38689609Huntington's Disease: Relationship Between Phenotype and Genotype
Q39123687Juvenile Huntington's Disease: Diagnostic and Treatment Considerations for the Psychiatrist
Q37443153Managing juvenile Huntington's disease
Q38009700Mechanism(s) of alteration of micro RNA expressions in Huntington's disease and their possible contributions to the observed cellular and molecular dysfunctions in the disease
Q36569413Metabolic disruption identified in the Huntington's disease transgenic sheep model
Q89171552Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis
Q47646443Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.
Q36733635Pathogenic cellular phenotypes are germline transmissible in a transgenic primate model of Huntington's disease
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Q58804203Regional Diversity in the Postsynaptic Proteome of the Mouse Brain
Q37186031The personal experience of parenting a child with juvenile Huntington's disease: perceptions across Europe
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Q36722683Translational research in Huntington's disease: opening up for disease modifying treatment