Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

Table 1

Clinical and laboratory characteristics of the patients.

Feature	Patient II.5	Patient II.1	Patient II.10	Patient II.11	Patient III.5
Age at evaluation	37	47	52	40	11
Age at onset	18	27	16	16	Infant
Duration of the disease	19	20	36	24	11
Sex	M	M	M	F	F
First symptom	Ataxia, paresthesia	Ataxia	Ataxia	Ataxia	MMR
Ataxia	++	+++	+++	+++	+++
Dysarthria	+	++	++	++	++
Muscle weakness
Upper limbs	+	−	−	+	++
Lower limbs	+	+	−	+++	+++
Deep tendon reflexes
Upper limbs	Absent	Absent	Diminished	Absent	Absent
Lower limbs	Absent	Absent	Absent	Absent	Absent
Joint position/vibration sense abnormalities
Upper limbs	−	−	−	+	NP
Lower limbs	+	+	+	+	NP
Babinski sign	Absent	Extensor	Flexor	Extensor	Extensor
Extraneurological findings	Scoliosis, hammer toes	Scoliosis	Scoliosis	Scoliosis	Scoliosis
Cardiomyopathy	−	−	−	−	−
Cranial MRI	Arachnoid cyst	Arachnoid cyst	NP	CV, CSP, NL, and C-Ce atrophy	Ce-atrophy
NCS	Demyelinating neuropathy	Sensorial neuropathy	NP	Sensorial neuropathy	Sensorial neuropathy
Functional score	Unable to walk without help	Confined to wheelchair	Confined to wheelchair	Confined to wheelchair	Confined to wheelchair

M: male, F: female, MMR: mental motor retardation, NP: not performed, NL: nodular lesions, CV: cavum vergae, CSP: cavum septum pellucidum, C: cerebral, and Ce: cerebellar. +++: severe; ++: moderate; +: mild; −: no.