G. PSIMMENOS, N. Grigoriadis, D. Parisis, T. Afrantou, P. Ioannidis; Thessaloniki/GR; (Poster POD416) EAN Congress 2017 in Amsterdam
We report two cases , a 56 year old male patient and a 29 year old female patient. In both cases examination revealed typical clinical symptoms of the disease such as gait-limb ataxia , impaired tandem gait, severe swaying on testing for Romberg sign. There was no history of weakness or numbness. The uncommon findings in both of them were the exaggerated deep tendon reflexes and that the symptoms appeared at such an advanced age(>26 years old).That was the reason why both patients initially underwent genetic testing for other genetic disorders(spinocerebellar ataxia SCA). Genetic testing disclosed expanded GAA repeat length of FTX gene confirming a diagnosis of FA.
These cases highlight that the existence of increased tendon reflexes, although unusual is not incompatible with FA and thus should not prevent the clinician to consider it as a possible diagnosis when the rest clinical picture, the personal-family history and the neurological signs are in keeping with diagnosis of FA
Monday, January 29, 2018
Early onset Friedreich Ataxia without cardiomyopathy
O. Rujan, I. BURAGA, A. Enachi, I. Ionescu, C. Baetu; Bucharest/RO; (Poster POD163) EAN Congress 2017 in Amsterdam
There is a very important clinical distinction between classic FA and its variants, which consists in the absence of kyphoscoliosis and heart disease (a frequent component) which gives the latter group a better prognosis. Our case shows that an early onset of FA doesn’t necessarily mean the patient will develop cardiomyopathy.
Our patient is a 25 year old female whose symptoms were onset at the age of 3 years old and consisted of ataxia of gait, difficulties in standing steadily and in running. The clinical features progressed slowly and now she presents: gait and limb ataxia, the lower limb reflexes are preserved, Romberg sign is present, a rhythmic tremor of the head and upper limbs (more visible during emotional stress), horizontal nystagmus, the speech is slow, slurred and explosive, pes cavus and hammertoes.
This case has some particularities: the early onset of the symptoms, a very slow progression, the preserved lower limb reflexes and the absence of cardiomyopathy.
There is a very important clinical distinction between classic FA and its variants, which consists in the absence of kyphoscoliosis and heart disease (a frequent component) which gives the latter group a better prognosis. Our case shows that an early onset of FA doesn’t necessarily mean the patient will develop cardiomyopathy.
Our patient is a 25 year old female whose symptoms were onset at the age of 3 years old and consisted of ataxia of gait, difficulties in standing steadily and in running. The clinical features progressed slowly and now she presents: gait and limb ataxia, the lower limb reflexes are preserved, Romberg sign is present, a rhythmic tremor of the head and upper limbs (more visible during emotional stress), horizontal nystagmus, the speech is slow, slurred and explosive, pes cavus and hammertoes.
This case has some particularities: the early onset of the symptoms, a very slow progression, the preserved lower limb reflexes and the absence of cardiomyopathy.
Autosomal-recessive cerebellar ataxias
Brent L. Fogel, Handbook of Clinical Neurology, Elsevier, Volume 147, 2018, Pages 187-209, ISSN 0072-9752, ISBN 9780444632333, Doi:10.1016/B978-0-444-63233-3.00013-0.
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50. In this review, the clinical neurogenetics of the recessive cerebellar ataxias will be discussed, including updates on recently identified novel ataxia genes, advancements in unraveling disease-specific molecular pathogenesis leading to ataxia, potential treatments under development, technologic improvements in diagnostic testing such as clinical exome sequencing, and what the future holds for clinicians and geneticists.
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50. In this review, the clinical neurogenetics of the recessive cerebellar ataxias will be discussed, including updates on recently identified novel ataxia genes, advancements in unraveling disease-specific molecular pathogenesis leading to ataxia, potential treatments under development, technologic improvements in diagnostic testing such as clinical exome sequencing, and what the future holds for clinicians and geneticists.
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