Table 1.

Clinical profiles of CtBP1 mutated patients

Patient	Age	Gender (M/F)	Global development delay	Enamel defects	Hypotonia	Neurologic exam	Oculomotor apraxia	MRI	EMG/Muscle Biopsy	EEG	Developmental regression	Other	reference
1	10	M	+	enamel defect	++	dysarthria, ataxia, weakness	not reported	mild volume loss of cerebellum, residual white matter changes	evidence of myopathy, fiber splitting, necrosis, no clear evidence of neuropathy	NP	None	Intermittent weakness spells with resolution	[1]
2	23	M	+	soft enamel with discoloration	++	ataxia, dysarthria, decreased muscle strength in upper and lower extremities; increased reflexes in LE	+	cerebellar atrophy with progression on MRI	NP	NP	None	Intermittent weakness spells with resolution	[1]
3	9	F	+	wide spaced incisors, brown discoloration of primary incisors	+	ataxia, dysarthria, muscle weakness, exercise intolerance, areflexia, hyperflexibility, tremors	+	superior cerebellar vermis is small, uncertain if this represents volume loss or hypoplasia. Superior vermis is more involved (smaller) than the superior hemispheres. No atrophy of brainstem, including the brachium pontis, or the spinal cord.	NP	normal	None		[1]
4	12 (deceased)	F	+	enamel hypoplasia	+	ataxia	+	MRI normal		normal	None		[1]
5	20	M	+	ND	+	ataxia	ND	not received	EMG: Needle exam showed fibrillation activity and a recruitment pattern of motor unit potentials c/w myopathic process.		None
6	22	F	+	protuberant malpositio- ned teeth, widely spaced incisors, brown discoloration of the roots	+	Limb-girdle and bulbar weakness, significantly decreased muscle bulk and tone throughout, areflexia, bilateral plantar extensor reflexes, bradykinetic movements and speech, wide-based gait requiring support to take steps, moderate contractures of the hips, knees, and elbows, microcephaly	present, horizontal nystagmus on lateral gaze	progressive, significant cerebellar volume loss over 10 years (10, 22 yoa). Mild enlargement of cerebral sulci, suggesting cerebral volume loss. Myelination age--appropriate. Normal gray white matter differentiation.	EMG: Bilateral ulnar mononeuropathies	EEG: mild diffuse background slowing	Slow regression of motor and language function		[22]
7	6	M	+	dental enamel defect	+	dysarthria, ataxia, muscle weakness	ND	Normal brain MRI at age 3 years	none	normal	None
8	6	M	+	enamel dysplasia	+	low tone, absent to areflexia in arms and legs. He was mildly hyperextensi- ble at the major joints and there was no ankle clonus. Babinski signs were present bilaterally.	ND	Cerebellar atrophy primarily involving the superior aspect of the cerebellum and the vermis was seen on the first study and again on the second study without interval change.	EMG is indicative of a difiiise mild to moderate chronic non-irritable myopathy.	NP	None
9	10	M	+	yes, unspecified, multiple cavities	+ (axial)	axial hypotonia, increased tone at ankles, ataxia, wide based gait, difficulty with balance, absent reflexes at knees and ankles, 1+ brachioradial- is weakness in hands and lower extremities	ND	at age 7 yo: mild enlargement of the cistema magna and hypoplasia of the inferior cerebellar vermis, consistent with a mild Dandy Walker cyst; at age 9 superior cerebellar vermis volume loss	None	normal	Motor, Cognitive
10	5	M	+	ND	+	low tone, ataxia, dysarthria	None	Cerebellum was underdeveloped and has not changed.	None	normal	Motor
11	11	M	+	discolored dental enamel, crowded dentition.	+	low tone, ataxia, dysarthria, marked truncal ataxia when standing, finger-to-nose dysmetria bilaterally, rapid alternating movement very slow and dysrhythmic	+	Significant vermian atrophy and to lesser extent bihemispheric cerebellar volume loss with associated volume loss of the superior and inferior cerebellar peduncles as well as the pons	NP	NP	None	Intermittent weakness spells with resolution
						ataxic, wide-based gait. Required full support to stand and walk.
12	16	F	+	ND	+	hypotonia, increased tone at elbows, wrists, knees, ankles	ND	mild cerebellar and brainstem atrophy	NP	NP	Motor, language		[22]

ND not described, NP not performed