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Table 5 Medical and neurological disorders with known or suspected maternal inheritance

From: Maternal transmission of Alzheimer's disease: Prodromal metabolic phenotype and the search for genes

Disorder Mechanism Clinical phenotype Reference
Kearns-Sayre
syndrome
mtDNA deletions present at
levels up to 80% of total
mtDNA. The most frequent is
4977 bp deletion
Paralysis of the extraocular
muscles, pigmentary retinopathy,
heart block, cerebellar ataxia and
elevated CSF proteins
Maceluch et al. [157]
Mitochondrial
encephalomyopathy,
lactic acidosis and
stroke-like episodes
(MELAS)
mtDNA mutation: A3243G
(tRNALeu(UUR))
Children and young adults.
Recurrent vomiting, migraine-like
headache, stroke-like episodes
causing cortical blindness,
hemiparesis or hemianopia
Thambisetty et al. [158]
Myoclonic epilepsy with
ragged red fibres
(MERRF)
mtDNA mutation: A8344G,
T8356C, G8363A (tRNALys)
Myclonus, seizures,
mitochondrial myopathy and
cerebellar ataxia; less common
signs can include dementia,
hearing loss, peripheral
neuropathy and multiple lipomas
DiMauro et al. [159]
Neuropathy, ataxia,
retinitis pigmentosa
(NARP)
mtDNA mutation: T8993G,
T8993C (nt-8993 at the
ATPase6 gene)
Retinitis pigmentosa, dementia,
seizures, ataxia, proximal
weakness and sensory
neuropathy
Holt et al. [160]
Maternally inherited
Leigh syndrome (MILS)
mtDNA mutation: T8993G,
T8993C (nt-8993 at the
ATPase6 gene)
Symmetrical lesions in the basal
ganglia and the brainstem
Holt et al. [160]
Leber's hereditary optic
neuropathy (LHON)
mtDNA mutation: G11778A
(ND4 gene),
G3460A (ND1 gene),
T14484C (ND6 gene)
Acute or subacute loss of vision
in young adults due to bilaterally
optic neuropathy
Yen et al. [161]
Progressive external
ophthalmoplegia (PEO)
mtDNA mutation in genes
encoding tRNALeu, tRNAIle and
tRNAAsn
Progressive paralysis of the
extraocular muscles
Silvestri et al. [162]
Maternally inherited
diabetes and deafness
(MIDD)
mtDNA mutation: A3243G
(tRNALeu)
Impaired glucose tolerance
(IGT)/diabetes, sensorineural
deafness. Other symptoms are:
macular pattern dystrophy (86%),
myopathy (43%), cardiomyopathy
(15%), neurological abnormalities
and neuropsychiatric symptoms
(18%), gastrointestinal and renal
dysfunction
Hosszufalusi et al. [163]
Juvenile myoclonic
epilepsy
Genomic imprinting: EJM-1
(chromosome 6)
Seizures Pal et al. [164]
Tourette's syndrome Genomic imprinting Multiple physical (motor) and
vocal (phonic) tics
Eapen et al. [165]
Angelman syndrome Genomic imprinting
(chromosome 15)
Intellectual and developmental
delay, sleep disturbance, seizures,
jerky movements, frequent
laughter or smiling and usually a
happy demeanour
Horsthemke
et al. [166]
Autism Genomic imprinting
(chromosome 15)
Autism Cook et al. [167]
Fragile X syndrome Unstable expansions of a CGG
trinucleotide repeat located in
the first exon
(non-protein-coding) of the
FMR1 gene (for fragile X mental
retardation)
Stereotypic movements and
atypical social development up
to autism. Cluttered or nervous
speech; intellectual disability
(from mild to severe); elongated
face, large or protruding ears, flat
feet and low muscle tone
Mandel et al. [132]
Friedreich ataxia GAA repeat expansion
(chromosome 9)
Ataxia, gait disturbance, speech
problems, heart disease
(in some cases)
La Pean et al. [133]
Myotonic dystrophy CTG repeat expansion Muscle weakness, cataract,
myotonia, infertility
Botta et al. [134]
  1. bp = base pair; CSF = cerebrospinal fluid