Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

Table 1

Diagnostic criteria.

(a) TSC. Definite TSC: two major or one major and two minor features; probable; TSC: one major and one minor feature; possible TSC: one major or two or more minor features

Major features	Minor features
Cortical tubers	Dental enamel pits
Subependymal nodules	Hamartomatous rectal polyps
Subependymal giant cell astrocytoma	Bone cysts
Hypomelanotic macules (3 or more)	Cerebral white matter radial migration lines
Shagreen patch	Gingival fibromas
Facial angiofibromas or forehead plaque	Nonrenal hamartoma
Multiple renal nodular hamartomas	Retinal achromatic patches
Nontraumatic ungual or periungual fibromas	“Confetti” skin lesions
Cardiac rhabdomyoma	Multiple renal cysts
Pulmonary lymphangiomyomatosis and/or renal angiomyolipomas

(b) NF1. Presence of two or more clinical features

Family history of NF1	Neurofibromas or plexiform neurofibromas
Six or more cafe-au-lait spots	Axillary or groin freckling
Lisch nodules	Skeletal abnormalities—tibial dysplasia or shin bone thinning
Optic glioma

(c) FXS

Full mutation >200 CGG repeats
Premutation 50–230 CGG repeats

(d) PTHS (Only Cowden syndrome has diagnostic criteria). Cowden syndrome. Operational diagnosis: mucocutaneous lesion alone if: 6 or more facial papules, 3 or more trichilemmoma; cutaneous facial papules and oral mucosal papillomatosis; oral mucosal papillomatosis and acral keratosis, or 6 or more palmoplantar keratosis; or two or major criteria, including macrocephaly or adult Lhermitte-Duclos disease; or one major or three minor criteria; or four minor criteria

Pathognomic criteria	Major criteria	Minor criteria
Adult Lhermitte-Duclos	Breast cancer	Intellectual disability
Mucocutaneous lesions	Thyroid cancer	Other thyroid lesions
	Macrocephaly	GI hamartomas
	Endometrial cancer	Fibrocystic breast disease
		Lipomas; fibromas
		Genitourinary tumors or malformations

EIF4E (No diagnostic criteria).