Limits...
Familial segmental spinal myoclonus: a rare clinical feature of Friedreich's ataxia.

Jain RS, Kumar S, Tejwani S - Springerplus (2015)

Bottom Line: Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus.Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of chromosome 9 and 2% patients are compound heterozygous for GAA expansion and point mutations.Triplet repeat primed polymerase chain reaction (TP-PCR) demonstrated unstable expansion of >66 GAA repeats.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Sawai Man Singh Medical College, Jaipur, Rajasthan India.

ABSTRACT

Introduction: Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of chromosome 9 and 2% patients are compound heterozygous for GAA expansion and point mutations.

Case description: We observed an adolescence onset FRDA exhibiting spinal segmental myoclonus (SSM) in a family. Triplet repeat primed polymerase chain reaction (TP-PCR) demonstrated unstable expansion of >66 GAA repeats.

Conclusions: SSM is a unique and rare manifestation of FRDA. This might be the first case report of SSM in FRDA patient.

No MeSH data available.


Related in: MedlinePlus

Magnetic resonance imaging (MRI) of brain showing cerebellar atrophy.
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4495095&req=5

Fig1: Magnetic resonance imaging (MRI) of brain showing cerebellar atrophy.

Mentions: Routine hemogram and serum biochemistry including vitamin B12 level and thyroid function tests were normal. Peripheral blood smear for acanthocytes was negative. Electrocardiography (ECG) and 2D-Echocardiography were normal. The compound motor action potentials (CMAPs) showed decreased amplitude in bilateral median, ulnar, peroneal and tibial nerves. The sensory nerve action potentials (SNAPs) were non-recordable in bilateral sural and superficial peroneal nerves. Conventional electroencephalogram (EEG) and 24-h video-EEG did not show any epileptic activity during abnormal movement of limbs. Somatosensory evoked potentials (SSEP) was normal. Surface electromyography (EMG) recordings of supraspinatus, deltoid, biceps and brachioradialis muscles showed semi-rhythmic, myoclonic bursts with a rate of 3–4 Hz without activity in other muscles. The duration of EMG bursts was variable ranging 100–350 ms in these muscles. From surface EMG, the myoclonus seems to originate in the C5–C6 spinal cord segments. We also performed EEG–EMG recording and EEG back-averaging technique to rule out any cortical association. Magnetic resonance imaging (MRI) of spine and brain showed scoliosis of dorso-lumbar region with convexity towards the left side and vermian atrophy, respectively (Figure 1). Genetic study of nucleated cells in peripheral blood by “triplet repeat primed PCR (polymerase chain reaction) Assay” of frataxin gene revealed expansion of >66 GAA repeats in the intron 1.Figure 1


Familial segmental spinal myoclonus: a rare clinical feature of Friedreich's ataxia.

Jain RS, Kumar S, Tejwani S - Springerplus (2015)

Magnetic resonance imaging (MRI) of brain showing cerebellar atrophy.
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4495095&req=5

Fig1: Magnetic resonance imaging (MRI) of brain showing cerebellar atrophy.
Mentions: Routine hemogram and serum biochemistry including vitamin B12 level and thyroid function tests were normal. Peripheral blood smear for acanthocytes was negative. Electrocardiography (ECG) and 2D-Echocardiography were normal. The compound motor action potentials (CMAPs) showed decreased amplitude in bilateral median, ulnar, peroneal and tibial nerves. The sensory nerve action potentials (SNAPs) were non-recordable in bilateral sural and superficial peroneal nerves. Conventional electroencephalogram (EEG) and 24-h video-EEG did not show any epileptic activity during abnormal movement of limbs. Somatosensory evoked potentials (SSEP) was normal. Surface electromyography (EMG) recordings of supraspinatus, deltoid, biceps and brachioradialis muscles showed semi-rhythmic, myoclonic bursts with a rate of 3–4 Hz without activity in other muscles. The duration of EMG bursts was variable ranging 100–350 ms in these muscles. From surface EMG, the myoclonus seems to originate in the C5–C6 spinal cord segments. We also performed EEG–EMG recording and EEG back-averaging technique to rule out any cortical association. Magnetic resonance imaging (MRI) of spine and brain showed scoliosis of dorso-lumbar region with convexity towards the left side and vermian atrophy, respectively (Figure 1). Genetic study of nucleated cells in peripheral blood by “triplet repeat primed PCR (polymerase chain reaction) Assay” of frataxin gene revealed expansion of >66 GAA repeats in the intron 1.Figure 1

Bottom Line: Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus.Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of chromosome 9 and 2% patients are compound heterozygous for GAA expansion and point mutations.Triplet repeat primed polymerase chain reaction (TP-PCR) demonstrated unstable expansion of >66 GAA repeats.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Sawai Man Singh Medical College, Jaipur, Rajasthan India.

ABSTRACT

Introduction: Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of chromosome 9 and 2% patients are compound heterozygous for GAA expansion and point mutations.

Case description: We observed an adolescence onset FRDA exhibiting spinal segmental myoclonus (SSM) in a family. Triplet repeat primed polymerase chain reaction (TP-PCR) demonstrated unstable expansion of >66 GAA repeats.

Conclusions: SSM is a unique and rare manifestation of FRDA. This might be the first case report of SSM in FRDA patient.

No MeSH data available.


Related in: MedlinePlus