Early-onset Dementia

Gene: XK

Green List (high evidence)

Progressive neurological disorder, some clinical similarities with HD, including choreoathetosis. Cognitive impairment in ~50% according to OMIM.

Created: 14 Aug 2023, 9:02 a.m. | Last Modified: 14 Aug 2023, 9:02 a.m.

Panel Version: 0.166

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
McLeod syndrome with or without chronic granulomatous disease (MIM#300842)

Green List (high evidence)

McLeod Syndrome (MLS) is multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males.

Dementia is not a typical feature of MLS but cognitive impairment has been identified in multiple individuals with MLS.

PMID: 12899725
Reported in one individual with McLeod Syndrome (MLS) who developed mild dementia during disease progression (age of onset was later in life). Testing confirmed he has a complete deletion of exon 2.

PMID: 11761473
Approx 15 individuals identified with neurological impact to the central nervous system resulting in cognitive impairment.

Created: 21 Aug 2023, 12:26 a.m. | Last Modified: 21 Aug 2023, 12:26 a.m.

Panel Version: 0.216

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
McLeod syndrome with or without chronic granulomatous disease (MIM#300842)

Publications

• 12899725
• 11761473