HDL syndrome

Acronym for Huntington's Disease-Like syndrome)

There are neurological diseases with a phenotype similar to Huntington's disease (see this term) but the genetic origin of which is not a mutation of the HTT gene.

These phenocopies are:


Type of phenocopy

GENE

transmission mode

HDL1

HDL2

HDL3

HDL4 (spinocerebellar ataxia type 17)


Neuroferritinopathy

Wilson disease


Benign hereditary chorea


Choreo-acanthocytosis

Mc Leod syndrome

PRNP (prion protein)

JPH3 (junctophiline 3)

?

TBP (Tata-box-binding protein)

FTL (ferritin light chain)

ATP7B

TITF1(thyroid transcription factor)

VPPS13A

XK

autosomal dominant

autosomal dominant

autosomal recessive

autosomal dominant

autosomal dominant


autosomal dominant

autosomal recessive


autosomal dominant


autosomal recessive

X-linked


Anesthetic implications: 

see Huntington disease, Wilson disease, McLeod syndrome, choreoacanthosis


References : 

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Updated: September 2017*