Table 1 Main clinical, biological, genetic and¹H-MRS features of the patients affected with PCD

CLINICAL DATA

Sex

 Male

 Female

 Ratio (M/F)

Consanguinity

Age of onset (years)

 ≤ 2 years

 > 2 years

Age at diagnosis(years)

 ≤ 2 years

 [2–5 years]

 [5–10 years]

 > 10 years

Main clinical signs

 Intellectual disability

 Speech delay

 Failure to thrive

 Hypotonia

 Myopathy

 Motor delay

 Epilepsy

 Extrapyramidal signs

 Attention deficit

 Sleeping disturbances

 Agressive behaviour

 Autistic behaviour

Signs leading to consult

 Combined motor and speech delay

 Epilepsy

 Intellectual disability

 Autistic behavior

 Familial exploration

METABOLIC DATA

Plasma GAA (μmol/l)

 < 15 years: [0.35-1.8]^a

 > 15 years: [1.0-3.5] ^a

Plasma creatine (μmol/l)

 < 10 years: [17–109]^a

 > 10 years: [6.0-50]^a

Urine GAA/creatinine (mmol/mol)

 < 15 years: [2–220]^a

 > 15 years: [3–78]^a

Urine creatine/creatinine (mmol/mol)

 < 4 years: [6–1208]^a

 4–12 years: [17–721]^a

 > 12 years: [11–244]^a

Brain¹H-MRS investigation

GENETIC DATA

 Non-sense mutation

 Missense mutation

 Insertion

 Deletion

 Duplication

 Splicing mutation

FUNCTIONNAL TESTS

GAMT Activity (lymphoblasts)

Creatine transport assay (fibroblasts)