?????? ???: ??? ????? ?? ??? ????? pes cavus ?????? ?? ??? ??????? ???????

1
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2
?? 64. ????? ???. ???? ???? 6 ??????. ????? ????
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90 ?? ???? ?????? ?????? ????????. ?? ???? ????
60 ?????. ??? ?? ?????. ??? 25 ???? ????? ??????
????? ?1999. ?????? ??? ??? ????? ?? ??? ?????
pes cavus ?????? ?? ??? ??????? ??????? ?? ??
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???? ??????
3
???? ???? ???? ??? ????? ?? ??? ???????? ????
??????? ????? ?-CMT ????? ?? ??? ????????
????"?. ?????? ??? ??? pes cavus, ???? ????,
??????? ???????, ???? ??????, ?????? ????. ?NCV
????????? ????????????. ?- MRI ????? ???????
??????? ??????? ?? ??? ?? ???? ???????.
4
????? ?????? ??? ????? ????????? ?? ?????
(?????). ????????? ???. ?????? ???????? ???
????. ?????? ??????. ????? ?????? ??? ????
?????? ??????. Pes cavus ?? hammering ??
???????. ??????? ??? ?? ??????????? ????? , ???
??????? ???????? ???????. ??? ???? ??????
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???????. ???? ?????? ??????? ?? ???? ???? ????
???? ?????.
5
?????? ?? ???????, ?????, ??????????? ??
???????, B12, TSH ??????. MRI ?????? ??? ???
??????? ?? ???? ??? ??? ???? ????? ????. ????
???? ??. MRI ??? ????. ?NCV ?????????
???????? ?????????????.
6
?????? ?????? ?????????? SCA 1-3,6 ?????? ??????
?"? ???????? ???? DRPLA - ????
7
????????
8
branching enzyme ??????????? ????? ???
????? 9 (180-360). ????? Polyglucosan body
disease
9

• Polyglucosan body disease Adult-onset
• Glycogen branching enzyme Chromosome 3
  Recessive
• Genetics Missense mutations
• Ashkenazi Jewish patients Tyr329Ser
• German Italian Arg515His Arg524Gln
• Epidemiology
• Mostly in Ashkenazi Jewish patients
• Non Ashkenazi Jewish patients German, Italian

10
Clinical features CNS Polyneuropathy Onset
Adult gt 40 yrs, Slowly progressive Other forms
in childhood with myopathy hepatic disease
Polyneuropathy Legs gt Arms, Motor Weakness,
Distal Sensory loss Large fiber modalities
Myelopathy Spasticity Legs Neurogenic bladder
Tendon reflexes Brisk in legs Extensor plantar
responses Dementia (67) Cortical Subcortical
MRI Cortical atrophy White-matter disease
11
Ann Neurol. 1991 Nov30(5)655-62 Hereditary
branching enzyme dysfunction in adult
polyglucosan body disease a possible metabolic
cause in two patients.Lossos A, Barash V,
Soffer D, Argov Z, Gomori M, Ben-Nariah Z,
Abramsky O, Steiner I.Department of Neurology,
Hadassah University Hospital, Hebrew
University-Hadassah Medical School, Jerusalem,
Israel.
12
Ann Neurol. 1998 Dec44(6)867-72 Adult
polyglucosan body disease in Ashkenazi Jewish
patients carrying the Tyr329Ser mutation in the
glycogen-branching enzyme gene.Lossos A, Meiner
Z, Barash V, Soffer D, Schlesinger I, Abramsky O,
Argov Z, Shpitzen S, Meiner V. Department of
Neurology, Hebrew University-Hadassah Medical
School and Hadassah University Hospital,
Jerusalem, Israel.